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: 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: rs727504385
rs727504385
MYH7 ; MHRT
1.000 0.080 14 23415210 missense variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2011 2017
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
0.882 0.080 14 23415651 missense variant C/G;T snv 4.0E-06; 2.0E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2008 2017
dbSNP: rs121913650
rs121913650
MYH7 ; MHRT
0.925 0.080 14 23415652 missense variant G/A snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2005 2017
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: rs397516220
rs397516220
MYH7 ; MHRT
0.925 0.160 14 23416988 splice acceptor variant CTC/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2011 2015
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: 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: rs730880800
rs730880800
MYH7 ; MIR208B ; MHRT
1.000 0.080 14 23417556 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2011 2017
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: rs397516202
rs397516202
MYH7 ; MIR208B
0.882 0.080 14 23418244 missense variant C/A;T snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2002 2013
dbSNP: rs397516201
rs397516201
MYH7 ; MIR208B
0.882 0.080 14 23418249 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 12 2003 2017
dbSNP: rs727503246
rs727503246
MYH7 ; MIR208B
0.882 0.080 14 23418313 missense variant C/T snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2004 2013
dbSNP: rs730880781
rs730880781
MYH7 ; MIR208B
1.000 0.080 14 23419949 missense variant C/G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2013 2014
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: 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: 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: rs397516172
rs397516172
MYH7
0.925 0.080 14 23424036 inframe deletion CTC/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 1998 2017
dbSNP: rs397516171
rs397516171
MYH7
0.763 0.160 14 23424041 missense variant C/G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2008 2017
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: rs727503252
rs727503252
MYH7
0.882 0.080 14 23424047 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2003 2017
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: rs730880759
rs730880759
MYH7
0.925 0.080 14 23424068 stop gained C/A;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2017 2017
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: 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