ClinVar Miner

List of variants in gene USH1C reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1101A>G (p.Glu367=) rs764975771
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr)
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487
NM_153676.4(USH1C):c.1211-1134G>A rs115931035
NM_153676.4(USH1C):c.1211-1140G>A
NM_153676.4(USH1C):c.1211-1152G>A rs116996553
NM_153676.4(USH1C):c.1211-1175G>A rs143923730
NM_153676.4(USH1C):c.1211-1177G>T
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.135C>T (p.Asp45=) rs140319839
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
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.2240A>G (p.Gln747Arg) rs201600193
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp)
NM_153676.4(USH1C):c.2270G>A (p.Arg757His)
NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys)
NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe)
NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn)
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875
NM_153676.4(USH1C):c.2374C>A (p.Arg792=) rs200428926
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)
NM_153676.4(USH1C):c.2381-10C>T rs765925104
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234
NM_153676.4(USH1C):c.324T>C (p.Phe108=) rs549758189
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr)
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579
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.405C>G (p.Val135=)
NM_153676.4(USH1C):c.412A>G (p.Asn138Asp)
NM_153676.4(USH1C):c.442G>A (p.Glu148Lys)
NM_153676.4(USH1C):c.497-4G>A rs397517881
NM_153676.4(USH1C):c.501C>T (p.Ile167=)
NM_153676.4(USH1C):c.513C>T (p.Pro171=) rs199739341
NM_153676.4(USH1C):c.514G>T (p.Val172Leu)
NM_153676.4(USH1C):c.567G>T (p.Val189=)
NM_153676.4(USH1C):c.569C>G (p.Ser190Trp)
NM_153676.4(USH1C):c.600C>T (p.Gly200=)
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543
NM_153676.4(USH1C):c.759+10G>T rs368528034
NM_153676.4(USH1C):c.776T>G (p.Val259Gly)
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849
NM_153676.4(USH1C):c.819+10G>C rs41282936
NM_153676.4(USH1C):c.864T>G (p.Ile288Met)
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln) rs140424216

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