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: rs1060505018
rs1060505018
MYH7
1.000 0.080 14 23424817 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs1555336467
rs1555336467
MYH7 ; MHRT
1.000 0.080 14 23416211 inframe deletion CTC/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516098
rs397516098
MYH7
0.882 0.080 14 23429044 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516142
rs397516142
MYH7
1.000 0.080 14 23425357 missense variant C/A;G;T snv 8.0E-06; 1.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516166
rs397516166
MYH7
0.925 0.080 14 23424085 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516207
rs397516207
MYH7 ; MIR208B ; MHRT
0.925 0.080 14 23417597 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs730880160
rs730880160
MYH7
1.000 0.080 14 23427846 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs730880161
rs730880161
MYH7
1.000 0.080 14 23424044 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs121913632
rs121913632
MYH7
0.882 0.080 14 23425760 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 19 1985 2017
dbSNP: rs121913624
rs121913624
MYH7
0.851 0.080 14 23429278 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.710 1.000 13 1990 2018
dbSNP: rs3218714
rs3218714
MYH7
0.763 0.160 14 23429279 missense variant G/A;C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 1990 2013
dbSNP: rs3218713
rs3218713
MYH7
0.763 0.160 14 23431468 missense variant C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.710 1.000 5 1991 2015
dbSNP: rs121913625
rs121913625
MYH7
0.851 0.080 14 23429005 missense variant G/A;C;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 19 1992 2014
dbSNP: rs121913626
rs121913626
MYH7
0.882 0.080 14 23427723 missense variant C/A;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 17 1992 2018
dbSNP: rs121913631
rs121913631
MYH7
0.882 0.080 14 23424107 missense variant G/C snv 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 17 1992 2017
dbSNP: rs121913627
rs121913627
MYH7
0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 15 1992 2014
dbSNP: rs121913630
rs121913630
MYH7
0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.710 1.000 12 1992 2018
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 1992 2017
dbSNP: rs121913638
rs121913638
MYH7
0.851 0.120 14 23425980 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 13 1994 2017
dbSNP: rs121913641
rs121913641
MYH7
0.882 0.080 14 23425970 missense variant C/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 13 1994 2013
dbSNP: rs121913637
rs121913637
MYH7
0.882 0.080 14 23425971 missense variant G/A snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 10 1994 2017
dbSNP: rs138049878
rs138049878
MYH7
0.925 0.080 14 23424840 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 16 1995 2018
dbSNP: rs36211715
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.710 1.000 16 1995 2017
dbSNP: rs727504294
rs727504294
MYH7
1.000 0.080 14 23427714 missense variant C/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 1995 2017
dbSNP: rs397516101
rs397516101
MYH7
0.882 0.080 14 23429004 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 1996 2011