ClinVar Miner

List of variants in gene TNNT2 reported as pathogenic for Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000364.4(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_000364.4(TNNT2):c.304C>T (p.Arg102Trp) rs397516456
NM_000364.4(TNNT2):c.305G>A (p.Arg102Gln) rs121964856
NM_000364.4(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_000364.4(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_000364.4(TNNT2):c.418C>T (p.Arg140Cys) rs397516463
NM_000364.4(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_000364.4(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_000364.4(TNNT2):c.508_510GAG[3] (p.Glu173del) rs397516470
NM_000364.4(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_000364.4(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_000364.4(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_000364.4(TNNT2):c.635G>A (p.Arg212Gln) rs121964860
NM_000364.4(TNNT2):c.641_643AGA[3] (p.Lys217del) rs45578238
NM_000364.4(TNNT2):c.854G>C (p.Arg285Pro) rs397516484
NM_000364.4(TNNT2):c.881G>A (p.Trp294Ter) rs727504247

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