ClinVar Miner

List of variants in gene TNNI3 studied for Primary familial hypertrophic cardiomyopathy

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys) rs397516344 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.549+68_549+69insGGCCTA rs139158921
NM_000363.5(TNNI3):c.566G>A (p.Gly189Glu) rs587782980
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729

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