ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln) rs187147906 0.00022
NM_153676.4(USH1C):c.1458T>C (p.Ile486=) rs147743437 0.00019
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn) rs138123405 0.00019
NM_153676.4(USH1C):c.1591C>T (p.Arg531Cys) rs140528164 0.00018
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp) rs143803480 0.00016
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_153676.4(USH1C):c.2566G>A (p.Val856Ile) rs201308481 0.00009
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) rs371856107 0.00009
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573 0.00008
NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln) rs895318911 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr) rs201104489 0.00005
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
NM_153676.4(USH1C):c.1768G>A (p.Ala590Thr) rs369255684 0.00004
NM_153676.4(USH1C):c.1793G>A (p.Arg598His) rs767863235 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.1994G>A (p.Ser665Asn) rs150854703 0.00003
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp) rs200428926 0.00003
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00003
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu) rs1157049229 0.00001
NM_153676.4(USH1C):c.2138A>G (p.Gln713Arg) rs1554955501 0.00001
NM_153676.4(USH1C):c.2270G>A (p.Arg757His) rs753703742 0.00001
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) rs140313023 0.00001
NM_005709.4(USH1C):c.1220G>C (p.Gly407Ala) rs143923730
NM_153676.4(USH1C):c.1260+3A>G
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.142C>G (p.Leu48Val)
NM_153676.4(USH1C):c.1471G>A (p.Glu491Lys)
NM_153676.4(USH1C):c.1519G>A (p.Glu507Lys) rs962425019
NM_153676.4(USH1C):c.1576G>A (p.Ala526Thr) rs727503711
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1831G>A (p.Val611Ile)
NM_153676.4(USH1C):c.1831G>T (p.Val611Phe) rs560416690
NM_153676.4(USH1C):c.2122T>C (p.Ser708Pro)
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn) rs775036726
NM_153676.4(USH1C):c.2443C>A (p.Leu815Met) rs148477093
NM_153676.4(USH1C):c.2696G>A (p.Arg899His)
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr) rs767655370
NM_153676.4(USH1C):c.376G>A (p.Val126Ile) rs1280648795
NM_153676.4(USH1C):c.436A>G (p.Thr146Ala)
NM_153676.4(USH1C):c.818A>T (p.Glu273Val) rs2133880564
NM_153676.4(USH1C):c.830T>G (p.Val277Gly)
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp) rs574790229

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