ClinVar Miner

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

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_001001430.2(TNNT2):c.238C>T (p.Pro80Ser) rs397516451
NM_001001430.2(TNNT2):c.330T>G (p.Phe110Leu) rs727504331
NM_001001430.2(TNNT2):c.416G>A (p.Arg139His) rs397516466
NM_001001430.2(TNNT2):c.613C>T (p.Arg205Trp) rs45586240
NM_001001430.2(TNNT2):c.734C>T (p.Ala245Val) rs369181536
NM_001001430.3(TNNT2):c.579+1del

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