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 gnomAD frequency
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470

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