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: rs397516074
rs397516074
MYBPC3
0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 19 1998 2014
dbSNP: rs397515905
rs397515905
MYBPC3
0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 18 1998 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 16 1997 2017
dbSNP: rs375882485
rs375882485
MYBPC3
0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 16 2003 2017
dbSNP: rs397515905
rs397515905
MYBPC3
0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 15 1998 2017
dbSNP: rs200411226
rs200411226
MYBPC3
0.851 0.080 11 47342718 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 13 1998 2013
dbSNP: rs397515937
rs397515937
MYBPC3
0.851 0.080 11 47339792 splice acceptor variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 12 1995 2014
dbSNP: rs397516050
rs397516050
MYBPC3
0.925 0.080 11 47350077 missense variant C/T snv 6.5E-05 1.0E-04
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 1.000 12 2008 2017
dbSNP: rs397516068
rs397516068
MYBPC3
0.882 0.080 11 47348541 missense variant C/A;G snv 4.1E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 12 2004 2017
dbSNP: rs121909374
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 1997 2017
dbSNP: rs397515937
rs397515937
MYBPC3
0.851 0.080 11 47339792 splice acceptor variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 1995 2014
dbSNP: rs397515963
rs397515963
MYBPC3
0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 1998 2015
dbSNP: rs397515963
rs397515963
MYBPC3
0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 11 1998 2015
dbSNP: rs397516000
rs397516000
MYBPC3
0.882 0.080 11 47333682 missense variant C/G;T snv 2.4E-05; 4.1E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 11 2005 2017
dbSNP: rs376395543
rs376395543
MYBPC3
0.882 0.080 11 47351507 splice acceptor variant T/C snv 2.7E-05 2.1E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 10 2004 2016
dbSNP: rs387907267
rs387907267
MYBPC3
0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 10 2003 2015
dbSNP: rs397515963
rs397515963
MYBPC3
0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 10 1998 2015
dbSNP: rs2856655
rs2856655
MYBPC3
0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 9 2003 2016
dbSNP: rs397515947
rs397515947
MYBPC3
1.000 0.040 11 47339376 frameshift variant G/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 9 1998 2017
dbSNP: rs397515990
rs397515990
MYBPC3
0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 9 1998 2014
dbSNP: rs727503166
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 9 2008 2017
dbSNP: rs193922384
rs193922384
MYBPC3
0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 1995 2014
dbSNP: rs2856655
rs2856655
MYBPC3
0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2003 2014
dbSNP: rs36211723
rs36211723
MYBPC3
0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2004 2015
dbSNP: rs36212066
rs36212066
MYBPC3
0.882 0.080 11 47332275 intron variant AGGGAAGCCATCCAGGCTGAGAGGG/- delins 4.0E-03 8.9E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 2003 2015