ClinVar Miner

List of variants in gene USH1C reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 21
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HGVS dbSNP
NM_153676.4(USH1C):c.105G>C (p.Gln35His) rs369151395
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1199G>A (p.Arg400His) rs750721690
NM_153676.4(USH1C):c.1512T>C (p.Ala504=) rs886043309
NM_153676.4(USH1C):c.1531A>C (p.Met511Leu) rs886044610
NM_153676.4(USH1C):c.1570C>T (p.Pro524Ser) rs576189967
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892
NM_153676.4(USH1C):c.1942G>A (p.Glu648Lys) rs368729447
NM_153676.4(USH1C):c.2014-1G>A rs150567427
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714
NM_153676.4(USH1C):c.2265C>T (p.Leu755=) rs151251262
NM_153676.4(USH1C):c.2391G>A (p.Val797=) rs375973884
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093
NM_153676.4(USH1C):c.275G>A (p.Arg92His) rs147954324
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579
NM_153676.4(USH1C):c.513C>T (p.Pro171=) rs199739341
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543
NM_153676.4(USH1C):c.674+4G>A rs202095395
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp) rs555152976
NM_153676.4(USH1C):c.966G>C (p.Arg322=) rs748749433

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