ClinVar Miner

List of variants in gene TNNI3 reported as pathogenic for Familial hypertrophic cardiomyopathy 7

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Total variants: 12
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HGVS dbSNP
NM_000363.5(TNNI3):c.258del (p.Leu88fs) rs727503507
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) rs104894724
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu) rs104894730
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly) rs104894728
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser) rs267607127
NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln) rs104894725
NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys) rs267607128
TNNI3, 3-BP DEL, LYS183

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