ClinVar Miner

List of variants in gene TNNT2 reported as pathogenic by Blueprint Genetics,

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_000364.3(TNNT2):c.304C>T (p.Arg102Trp) rs397516456
NM_001001430.2(TNNT2):c.236T>A (p.Ile79Asn) rs121964855
NM_001001430.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315379
NM_001001430.2(TNNT2):c.487_489delGAG (p.Glu163del) rs397516470
NM_001001431.2(TNNT2):c.291G>T (p.Lys97Asn) rs397516459

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