ClinVar Miner

List of variants in gene TNNT2 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) rs730881097 0.00002
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter) rs748970759 0.00001
NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg) rs727504255
NM_001276345.2(TNNT2):c.294T>A (p.Asp98Glu) rs397516454
NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu) rs397516454
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.316_318del (p.Glu106del) rs727504277
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.354_355delinsGT (p.His119Tyr) rs876658027
NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys) rs397516461
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) rs45525839
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys) rs376923877
NM_001276345.2(TNNT2):c.851+1G>T rs111377893
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) rs730881116

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