ClinVar Miner

List of variants in gene TNNI3 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.108+21G>A rs3729837 0.04872
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000363.5(TNNI3):c.585C>T (p.Ile195=) rs200085986 0.00001
NM_000363.5(TNNI3):c.606G>A (p.Glu202=) rs796474405 0.00001
NM_000363.5(TNNI3):c.373-4C>T rs2288530
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly) rs1060499912
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083

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