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: rs113358486
rs113358486
MYBPC3
0.925 0.080 11 47333555 splice donor variant A/C;G;T snv 8.4E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2013 2017
dbSNP: rs193922383
rs193922383
MYBPC3
0.925 0.080 11 47332896 stop gained G/A;T snv 4.2E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2014 2017
dbSNP: rs36212066
rs36212066
MYBPC3
0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2003 2014
dbSNP: rs397515907
rs397515907
MYBPC3
0.882 0.080 11 47342697 missense variant C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2003 2013
dbSNP: rs397515926
rs397515926
MYBPC3
0.882 0.080 11 47341235 frameshift variant T/- delins 4.9E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2003 2017
dbSNP: rs397516005
rs397516005
MYBPC3
0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2002 2017
dbSNP: rs397516042
rs397516042
MYBPC3
0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2008 2013
dbSNP: rs397516070
rs397516070
MYBPC3
0.882 0.080 11 47348486 missense variant T/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2003 2017
dbSNP: rs587782958
rs587782958
MYBPC3
0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2009 2013
dbSNP: rs727503172
rs727503172
MYBPC3
0.882 0.080 11 47333236 frameshift variant C/- del
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 1989 2014
dbSNP: rs730880603
rs730880603
MYBPC3
0.925 0.080 11 47332115 missense variant G/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2013 2017
dbSNP: rs111437311
rs111437311
MYBPC3
0.925 0.080 11 47342576 splice donor variant A/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2003 2017
dbSNP: rs371564200
rs371564200
MYBPC3
1.000 0.080 11 47341207 missense variant C/G;T snv 3.1E-05; 1.3E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2008 2017
dbSNP: rs397515891
rs397515891
MYBPC3
0.925 0.080 11 47343264 splice acceptor variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2003 2017
dbSNP: rs397515893
rs397515893
MYBPC3
0.925 0.080 11 47343158 intron variant C/T snv 1.3E-05; 4.2E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2002 2017
dbSNP: rs397515897
rs397515897
MYBPC3
0.882 0.080 11 47343019 splice donor variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2009 2017
dbSNP: rs397515935
rs397515935
MYBPC3
0.925 0.080 11 47341137 splice donor variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2009 2017
dbSNP: rs397515942
rs397515942
MYBPC3
0.925 0.080 11 47339670 stop gained C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2003 2017
dbSNP: rs397515975
rs397515975
MYBPC3
0.925 0.080 11 47337436 frameshift variant CG/AGA delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2003 2017
dbSNP: rs397516052
rs397516052
MYBPC3
0.925 0.080 11 47350060 frameshift variant G/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2012 2015
dbSNP: rs397516056
rs397516056
MYBPC3
0.925 0.080 11 47349923 splice acceptor variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2009 2017
dbSNP: rs397516067
rs397516067
MYBPC3
0.925 0.080 11 47348542 splice acceptor variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2009 2017
dbSNP: rs397516080
rs397516080
MYBPC3
0.882 0.080 11 47346639 frameshift variant AA/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2008 2015
dbSNP: rs398123279
rs398123279
MYBPC3
0.925 0.080 11 47342139 frameshift variant AC/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2004 2017
dbSNP: rs727503192
rs727503192
MYBPC3
0.925 0.080 11 47339718 frameshift variant AG/C;T delins 4.0E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2010 2017