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: rs121434475
rs121434475
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
1.000 0.080 MT 9997 non coding transcript exon variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs199476321
rs199476321
TPM1
0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2003 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: rs199476316
rs199476316
TPM1
0.925 0.080 15 63062219 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2008 2016
dbSNP: rs199476315
rs199476315
TPM1
0.827 0.080 15 63061723 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 9 2003 2016
dbSNP: rs104894503
rs104894503
TPM1
0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.740 1.000 12 1994 2015
dbSNP: rs397516373
rs397516373
TPM1
0.925 0.080 15 63059663 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2011 2017
dbSNP: rs1555408679
rs1555408679
TPM1
1.000 0.080 15 63059648 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs727503506
rs727503506
TNNI3
1.000 0.080 19 55154743 missense variant C/G snv 8.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2011 2017
dbSNP: rs1568858210
rs1568858210
TNNI3
1.000 0.080 19 55154175 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2011 2011
dbSNP: rs730881069
rs730881069
TNNI3
1.000 0.080 19 55154172 missense variant C/T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2011 2012
dbSNP: rs397516347
rs397516347
TNNI3
0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 2003 2017
dbSNP: rs104894724
rs104894724
TNNI3
0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.730 1.000 14 1997 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: rs397516353
rs397516353
TNNI3
0.882 0.080 19 55154109 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 12 2003 2017
dbSNP: rs368861241
rs368861241
TNNI3
0.851 0.120 19 55154095 missense variant G/A snv 4.0E-05 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.720 1.000 14 1997 2017
dbSNP: rs397516354
rs397516354
TNNI3
0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 17 1997 2017
dbSNP: rs727504242
rs727504242
TNNI3
0.925 0.080 19 55154082 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2004 2017
dbSNP: rs727503504
rs727503504
TNNI3
0.807 0.080 19 55154071 missense variant G/A;C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2009 2015
dbSNP: rs727503503
rs727503503
TNNI3
0.827 0.120 19 55154070 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2009 2017
dbSNP: rs727503501
rs727503501
TNNI3
1.000 0.080 19 55154053 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397516351
rs397516351
TNNI3
0.925 0.080 19 55154045 inframe deletion TTC/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2003 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: rs104894729
rs104894729
TNNI3
0.827 0.080 19 55151892 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 10 2003 2015
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