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: rs387907267
rs387907267
MYBPC3
0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2009 2015
dbSNP: rs397515912
rs397515912
MYBPC3
0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2008 2017
dbSNP: rs187830361
rs187830361
MYBPC3
0.882 0.080 11 47337729 missense variant A/C;G;T snv 1.7E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2004 2017
dbSNP: rs376395543
rs376395543
MYBPC3
0.882 0.080 11 47351507 splice acceptor variant T/C snv 2.7E-05 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2004 2017
dbSNP: rs397515916
rs397515916
MYBPC3
0.925 0.080 11 47342574 splice region variant T/A snv 1.3E-05 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2005 2017
dbSNP: rs397515990
rs397515990
MYBPC3
0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 1998 2011
dbSNP: rs397516029
rs397516029
MYBPC3
0.882 0.080 11 47332569 frameshift variant G/-;GG delins 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2009 2017
dbSNP: rs397516082
rs397516082
MYBPC3
0.882 0.080 11 47346372 splice acceptor variant T/C snv 5.1E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 1998 2019
dbSNP: rs111729952
rs111729952
MYBPC3
0.925 0.080 11 47337796 splice acceptor variant T/A;C;G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2004 2016
dbSNP: rs193922384
rs193922384
MYBPC3
0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 1995 2014
dbSNP: rs375882485
rs375882485
MYBPC3
0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 1998 2013
dbSNP: rs397515889
rs397515889
MYBPC3
0.925 0.080 11 47343547 frameshift variant G/-;GG delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2001 2017
dbSNP: rs397516073
rs397516073
MYBPC3
0.925 0.080 11 47347856 splice donor variant C/G;T snv 2.9E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 1998 2016
dbSNP: rs397516083
rs397516083
MYBPC3
0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2010 2016
dbSNP: rs727503195
rs727503195
MYBPC3
0.925 0.080 11 47341991 missense variant C/T snv 3.0E-05 4.9E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2013 2017
dbSNP: rs775404728
rs775404728
MYBPC3
0.851 0.080 11 47337535 missense variant G/A snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2003 2017
dbSNP: rs112738974
rs112738974
MYBPC3
0.882 0.080 11 47338519 splice donor variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 1997 2010
dbSNP: rs387906397
rs387906397
MYBPC3
0.851 0.080 11 47333192 splice donor variant A/C;G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2007 2014
dbSNP: rs397515966
rs397515966
MYBPC3
0.925 0.080 11 47337502 frameshift variant -/A delins 4.0E-06; 1.2E-05 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2004 2017
dbSNP: rs397515974
rs397515974
MYBPC3
0.882 0.080 11 47337452 stop gained G/A;C;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2004 2017
dbSNP: rs397515982
rs397515982
MYBPC3
0.925 0.080 11 47335944 stop gained C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2004 2012
dbSNP: rs397515991
rs397515991
MYBPC3
0.925 0.080 11 47335041 splice donor variant C/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 1997 2014
dbSNP: rs397516008
rs397516008
MYBPC3
0.925 0.080 11 47333297 frameshift variant -/A ins 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2010 2017
dbSNP: rs397516031
rs397516031
MYBPC3
0.925 0.080 11 47332565 splice donor variant C/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 1998 2017
dbSNP: rs397516037
rs397516037
MYBPC3
0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2001 2011