Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398123072
rs398123072
ACADM
1.000 0.080 1 75732682 missense variant C/G;T snv 3.2E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 8 1993 2016
dbSNP: rs786204566
rs786204566
ACADM
1.000 0.080 1 75732879 frameshift variant -/T delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 7 2001 2012
dbSNP: rs1057517356
rs1057517356
ACADM
1.000 0.080 1 75734833 frameshift variant AGTA/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 6 2004 2017
dbSNP: rs201375579
rs201375579
ACADM
1.000 0.080 1 75749507 missense variant A/G snv 3.2E-04 1.7E-04
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 6 2005 2014
dbSNP: rs373715782
rs373715782
ACADM ; DLSTP1
1.000 0.080 1 75745822 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 6 2005 2014
dbSNP: rs770273135
rs770273135
ACADM ; DLSTP1
0.925 0.080 1 75745904 missense variant T/A;C snv 4.0E-06; 8.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 6 2001 2017
dbSNP: rs370523609
rs370523609
ACADM ; DLSTP1
1.000 0.080 1 75745788 non coding transcript exon variant G/A snv 2.5E-04 5.0E-04
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 5 2010 2017
dbSNP: rs762114560
rs762114560
ACADM
1.000 0.080 1 75732886 missense variant C/T snv 7.2E-05 7.0E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 5 2006 2012
dbSNP: rs786204424
rs786204424
ACADM
1.000 0.080 1 75733625 splice donor variant G/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 5 2005 2012
dbSNP: rs875989857
rs875989857
ACADM
1.000 0.080 1 75734827 inframe deletion AAG/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 5 2010 2017
dbSNP: rs746136472
rs746136472
ACADM
1.000 0.080 1 75733561 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 4 2004 2010
dbSNP: rs759158371
rs759158371
ACADM
1.000 0.080 1 75761365 missense variant T/A snv 3.6E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 4 2007 2016
dbSNP: rs773677327
rs773677327
ACADM
1.000 0.080 1 75740091 missense variant A/G snv 2.0E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 4 2008 2016
dbSNP: rs778906552
rs778906552
ACADM
1.000 0.080 1 75734846 missense variant G/A snv 1.4E-04 2.8E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 4 2008 2012
dbSNP: rs780504551
rs780504551
ACADM
1.000 0.080 1 75749553 missense variant A/T snv 4.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 4 2005 2016
dbSNP: rs786204642
rs786204642
ACADM
1.000 0.080 1 75734849 frameshift variant CTGA/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 4 2005 2015
dbSNP: rs1553127216
rs1553127216
ACADM
1.000 0.080 1 75761366 missense variant A/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 3 2007 2016
dbSNP: rs387906297
rs387906297
ACADM
1.000 0.080 1 75761276 frameshift variant TTAG/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 3 1992 2010
dbSNP: rs758753966
rs758753966
ACADM
1.000 0.080 1 75761120 splice acceptor variant A/C snv 8.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 3 2006 2014
dbSNP: rs760892123
rs760892123
ACADM
1.000 0.080 1 75762744 missense variant T/C snv 2.0E-05 5.6E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 3 2010 2016
dbSNP: rs768884003
rs768884003
ACADM
1.000 0.080 1 75749467 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 3 2010 2016
dbSNP: rs1057516983
rs1057516983
ACADM
1.000 0.080 1 75733629 splice donor variant G/A;T snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 2001 2015
dbSNP: rs1057518677
rs1057518677
ACADM
1.000 0.080 1 75733526 splice acceptor variant A/G snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 2005 2010
dbSNP: rs1225471006
rs1225471006
ACADM
1.000 0.080 1 75761173 stop gained -/TAGAATGAGTTAC delins 3.2E-05 2.8E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 1984 1991
dbSNP: rs1462472677
rs1462472677
ACADM
1.000 0.080 1 75762704 missense variant A/G;T snv 4.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 2010 2017