ClinVar Miner

List of variants in gene USH1C reported as uncertain significance by Invitae

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Gene type:
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Total variants: 71
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HGVS dbSNP
NC_000011.9:g.(?_17514689_17519726del
NM_153676.4(USH1C):c.1039C>G (p.Gln347Glu)
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln)
NM_153676.4(USH1C):c.1085+5G>C
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251
NM_153676.4(USH1C):c.1199G>A (p.Arg400His) rs750721690
NM_153676.4(USH1C):c.1211-1112A>G
NM_153676.4(USH1C):c.1211-1151C>T
NM_153676.4(USH1C):c.127G>T (p.Val43Leu)
NM_153676.4(USH1C):c.148A>G (p.Ile50Val)
NM_153676.4(USH1C):c.163C>T (p.Arg55Cys)
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423
NM_153676.4(USH1C):c.2225T>C (p.Met742Thr)
NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys)
NM_153676.4(USH1C):c.2310C>T (p.Gly770=)
NM_153676.4(USH1C):c.2312G>T (p.Gly771Val)
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn)
NM_153676.4(USH1C):c.2360G>C (p.Arg787Pro)
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg)
NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys)
NM_153676.4(USH1C):c.2375G>C (p.Arg792Pro)
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
NM_153676.4(USH1C):c.238C>T (p.Arg80Trp)
NM_153676.4(USH1C):c.239G>A (p.Arg80Gln)
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys)
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.248+7_248+20del rs749047869
NM_153676.4(USH1C):c.2485G>A (p.Gly829Ser)
NM_153676.4(USH1C):c.2486G>A (p.Gly829Asp)
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn)
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539
NM_153676.4(USH1C):c.275G>A (p.Arg92His) rs147954324
NM_153676.4(USH1C):c.307C>A (p.Arg103Ser)
NM_153676.4(USH1C):c.332G>T (p.Gly111Val)
NM_153676.4(USH1C):c.358G>A (p.Gly120Ser)
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln)
NM_153676.4(USH1C):c.409A>G (p.Ile137Val)
NM_153676.4(USH1C):c.497-3C>A rs958295779
NM_153676.4(USH1C):c.49A>G (p.Ile17Val)
NM_153676.4(USH1C):c.502G>A (p.Gly168Ser)
NM_153676.4(USH1C):c.530A>G (p.Asp177Gly)
NM_153676.4(USH1C):c.538C>G (p.Leu180Val)
NM_153676.4(USH1C):c.569C>G (p.Ser190Trp)
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.579+8C>T
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln) rs397517883
NM_153676.4(USH1C):c.614G>A (p.Arg205Gln)
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934
NM_153676.4(USH1C):c.659G>A (p.Arg220Gln)
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.781G>A (p.Val261Ile)
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849
NM_153676.4(USH1C):c.822T>A (p.Ala274=)
NM_153676.4(USH1C):c.844C>T (p.Arg282Cys)
NM_153676.4(USH1C):c.845G>A (p.Arg282His) rs779111365
NM_153676.4(USH1C):c.864T>G (p.Ile288Met)
NM_153676.4(USH1C):c.870T>A (p.Ala290=)
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp)
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp)
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)
NM_153676.4(USH1C):c.928C>T (p.Arg310Cys)
NM_153676.4(USH1C):c.952C>A (p.Leu318Ile)
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln) rs140424216

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