ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 7 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.236G>T (p.Arg79Leu) rs397516342 0.00004
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.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000363.5(TNNI3):c.185A>G (p.Glu62Gly)
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.596G>A (p.Ser199Asn) rs730881091

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