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: rs397516470
rs397516470
TNNT2
0.851 0.080 1 201363377 inframe deletion CTC/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 1995 2012
dbSNP: rs397516484
rs397516484
TNNT2
0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 8 1997 2015
dbSNP: rs74315380
rs74315380
TNNT2
0.851 0.080 1 201364366 missense variant G/A;C snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.800 1.000 7 2000 2017
dbSNP: rs74315380
rs74315380
TNNT2
0.851 0.080 1 201364366 missense variant G/A;C snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.700 1.000 7 2004 2013
dbSNP: rs74315380
rs74315380
TNNT2
0.851 0.080 1 201364366 missense variant G/A;C snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 7 2004 2013
dbSNP: rs397516484
rs397516484
TNNT2
0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 6 1994 2014
dbSNP: rs397516484
rs397516484
TNNT2
0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 6 2003 2014
dbSNP: rs397516484
rs397516484
TNNT2
0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 6 2003 2014
dbSNP: rs74315380
rs74315380
TNNT2
0.851 0.080 1 201364366 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.720 1.000 6 2003 2016
dbSNP: rs727503512
rs727503512
TNNT2
0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 5 2012 2013
dbSNP: rs397516464
rs397516464
TNNT2
1 201364365 missense variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 4 2004 2014
dbSNP: rs397516471
rs397516471
TNNT2
0.882 0.080 1 201363348 missense variant C/T snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 4 2010 2013
dbSNP: rs397516471
rs397516471
TNNT2
0.882 0.080 1 201363348 missense variant C/T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 4 2010 2013
dbSNP: rs397516471
rs397516471
TNNT2
0.882 0.080 1 201363348 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 4 2010 2017
dbSNP: rs397516471
rs397516471
TNNT2
0.882 0.080 1 201363348 missense variant C/T snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.700 1.000 4 2010 2013
dbSNP: rs727504246
rs727504246
TNNT2
0.827 0.080 1 201363330 missense variant G/A snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 4 2000 2017
dbSNP: rs727504246
rs727504246
TNNT2
0.827 0.080 1 201363330 missense variant G/A snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 4 2000 2017
dbSNP: rs727504246
rs727504246
TNNT2
0.827 0.080 1 201363330 missense variant G/A snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 4 2000 2017
dbSNP: rs730881116
rs730881116
TNNT2
0.851 0.080 1 201359216 stop gained C/T snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 4 2003 2013
dbSNP: rs730881116
rs730881116
TNNT2
0.851 0.080 1 201359216 stop gained C/T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 4 2003 2013
dbSNP: rs730881116
rs730881116
TNNT2
0.851 0.080 1 201359216 stop gained C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 4 2003 2013
dbSNP: rs730881116
rs730881116
TNNT2
0.851 0.080 1 201359216 stop gained C/T snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.700 1.000 4 2003 2013
dbSNP: rs397516459
rs397516459
TNNT2
1.000 0.040 1 201365281 missense variant C/A;T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 3 2004 2011
dbSNP: rs45586240
rs45586240
TNNT2
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 3 2009 2017
dbSNP: rs45586240
rs45586240
TNNT2
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 3 2009 2017