ClinVar Miner

List of variants in gene USH1C reported by GeneDx

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Gene type:
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Total variants: 69
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HGVS dbSNP
NC_000011.10:g.17544490A>C rs1859819
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_153676.4(USH1C):c.1019+52G>A rs147022226
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409
NM_153676.4(USH1C):c.1086-108A>G rs2041032
NM_153676.4(USH1C):c.1086-12G>A rs11024318
NM_153676.4(USH1C):c.1086-42G>A rs2108332
NM_153676.4(USH1C):c.1086-45A>G rs2041031
NM_153676.4(USH1C):c.1211-1129G>A rs35188020
NM_153676.4(USH1C):c.1211-1134G>A rs115931035
NM_153676.4(USH1C):c.1211-1152G>A rs116996553
NM_153676.4(USH1C):c.1211-1418G>A rs12271449
NM_153676.4(USH1C):c.1260+7C>T rs978889964
NM_153676.4(USH1C):c.1261-34C>T rs2190454
NM_153676.4(USH1C):c.1414-34G>A rs2237964
NM_153676.4(USH1C):c.1449G>A (p.Ser483=) rs142669563
NM_153676.4(USH1C):c.1531-64C>A rs2237965
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775
NM_153676.4(USH1C):c.1824G>C (p.Pro608=) rs201101932
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu) rs139996942
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508
NM_153676.4(USH1C):c.1872G>A (p.Ser624=) rs80124409
NM_153676.4(USH1C):c.2134-12T>C rs76769358
NM_153676.4(USH1C):c.2138A>G (p.Gln713Arg) rs1554955501
NM_153676.4(USH1C):c.2184+229C>T rs11024312
NM_153676.4(USH1C):c.2226+12C>T rs17703528
NM_153676.4(USH1C):c.2226+197G>A rs12270644
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2280+29C>T rs114971046
NM_153676.4(USH1C):c.2281-113A>G rs2072234
NM_153676.4(USH1C):c.2347G>T (p.Ala783Ser) rs34077456
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093
NM_153676.4(USH1C):c.2491-165C>A rs2072230
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703
NM_153676.4(USH1C):c.2547-159_2547-158del rs10530940
NM_153676.4(USH1C):c.2547-183C>G rs1859824
NM_153676.4(USH1C):c.2547-8A>G rs78509055
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709
NM_153676.4(USH1C):c.2656-106T>C rs2072226
NM_153676.4(USH1C):c.2656-260A>G rs7108947
NM_153676.4(USH1C):c.2656-47C>T rs2072225
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234
NM_153676.4(USH1C):c.36+214C>T rs7125811
NM_153676.4(USH1C):c.37-243A>G rs2883581
NM_153676.4(USH1C):c.37-45C>G rs2240489
NM_153676.4(USH1C):c.37-47G>T rs2355022
NM_153676.4(USH1C):c.37-61A>G rs878546
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942
NM_153676.4(USH1C):c.387+17C>T rs78718533
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.496+33= rs12795083
NM_153676.4(USH1C):c.496+66G>T rs45552041
NM_153676.4(USH1C):c.521+14C>G rs1235631667
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878
NM_153676.4(USH1C):c.674+4G>A rs202095395
NM_153676.4(USH1C):c.675-296A>G rs4756898
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005
NM_153676.4(USH1C):c.759+272A>G rs79878474
NM_153676.4(USH1C):c.759+294C>T rs75165004
NM_153676.4(USH1C):c.760-116G>A rs41282938
NM_153676.4(USH1C):c.760-66T>C rs4757539
NM_153676.4(USH1C):c.819+10G>C rs41282936
NM_153676.4(USH1C):c.820-59C>T rs148317033
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155

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