ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005709.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629
NM_005709.4(USH1C):c.1199G>A (p.Arg400His) rs750721690
NM_005709.4(USH1C):c.1326+2T>C rs1554954858
NM_005709.4(USH1C):c.1365C>T (p.Leu455=) rs151251262
NM_005709.4(USH1C):c.1491G>A (p.Val497=) rs375973884
NM_005709.4(USH1C):c.513C>T (p.Pro171=) rs199739341
NM_153676.4(USH1C):c.105-16C>T rs2041027
NM_153676.4(USH1C):c.105G>C (p.Gln35His)
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1211-1129G>A rs35188020
NM_153676.4(USH1C):c.1211-1152G>A rs116996553
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)
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu) rs139996942
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.2167C>T (p.Gln723Ter) rs146451547
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709
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.381G>T (p.Gly127=) rs41282942
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413
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.91C>T (p.Arg31Ter) rs121908370
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155
NM_153676.4(USH1C):c.966G>C (p.Arg322=)

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