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: rs397516260
rs397516260
MYH7
0.882 0.080 14 23431789 missense variant C/A;T snv 1.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2003 2017
dbSNP: rs397516349
rs397516349
TNNI3
0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 1997 2014
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
1.000 0.080 14 23417174 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2004 2013
dbSNP: rs727503260
rs727503260
MYH7
0.851 0.080 14 23425403 missense variant C/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2003 2017
dbSNP: rs886039030
rs886039030
MYH7
0.925 0.080 14 23426045 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2003 2017
dbSNP: rs104894727
rs104894727
TNNI3
0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2002 2017
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2004 2013
dbSNP: rs148808089
rs148808089
MYH7
0.882 0.080 14 23429038 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2006 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: rs199476317
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2010 2017
dbSNP: rs267606908
rs267606908
MYH7
0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2002 2014
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: rs376897125
rs376897125
MYH7
0.882 0.080 14 23430601 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2003 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: rs397516157
rs397516157
MYH7
0.882 0.080 14 23424893 missense variant A/C;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2003 2017
dbSNP: rs397516178
rs397516178
MYH7
1.000 0.080 14 23422291 missense variant C/A;G;T snv 1.6E-05; 3.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2008 2017
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2009 2017
dbSNP: rs397516264
rs397516264
MYH7
0.763 0.160 14 23431602 missense variant C/T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2009 2017
dbSNP: rs397516357
rs397516357
TNNI3
0.851 0.120 19 55151910 missense variant C/T snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2003 2017
dbSNP: rs45611033
rs45611033
MYH7
0.925 0.080 14 23422292 missense variant G/A snv 2.4E-05 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2008 2017
dbSNP: rs587782962
rs587782962
MYH7
0.925 0.080 14 23422267 missense variant C/T snv 6.4E-05 7.7E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2004 2017
dbSNP: rs727504238
rs727504238
MYH7
0.882 0.080 14 23427746 missense variant T/C snv 1.6E-05 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2005 2017