ClinVar Miner

List of variants in gene USH1C studied for not provided

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP
NC_000011.10:g.17494423G>A
NC_000011.10:g.17510555C>T
NC_000011.10:g.17527190C=
NC_000011.10:g.17533367G>C
NC_000011.10:g.17533369C>A
NC_000011.10:g.17544490A>C
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_005709.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.1019+52G>A
NM_153676.4(USH1C):c.105G>C (p.Gln35His)
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1086-108A>G
NM_153676.4(USH1C):c.1086-42G>A
NM_153676.4(USH1C):c.1086-45A>G
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter)
NM_153676.4(USH1C):c.1211-1125G>T
NM_153676.4(USH1C):c.1211-1418G>A
NM_153676.4(USH1C):c.1261-34C>T
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270
NM_153676.4(USH1C):c.1512T>C (p.Ala504=) rs886043309
NM_153676.4(USH1C):c.1531-64C>A
NM_153676.4(USH1C):c.1531A>C (p.Met511Leu) rs886044610
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.1570C>T (p.Pro524Ser)
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.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys)
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508
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.2138A>G (p.Gln713Arg) rs1554955501
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.2184+229C>T
NM_153676.4(USH1C):c.2226+197G>A
NM_153676.4(USH1C):c.2280+29C>T
NM_153676.4(USH1C):c.2281-113A>G
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093
NM_153676.4(USH1C):c.2491-165C>A
NM_153676.4(USH1C):c.2547-159_2547-158del
NM_153676.4(USH1C):c.2547-183C>G
NM_153676.4(USH1C):c.2547-8A>G rs78509055
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573
NM_153676.4(USH1C):c.2656-106T>C
NM_153676.4(USH1C):c.2656-260A>G
NM_153676.4(USH1C):c.2695C>G (p.Arg899Gly) rs757572697
NM_153676.4(USH1C):c.275G>A (p.Arg92His) rs147954324
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880
NM_153676.4(USH1C):c.36+214C>T
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579
NM_153676.4(USH1C):c.37-243A>G
NM_153676.4(USH1C):c.37-61A>G
NM_153676.4(USH1C):c.496+66G>T
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543
NM_153676.4(USH1C):c.674+4G>A rs202095395
NM_153676.4(USH1C):c.675-296A>G
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005
NM_153676.4(USH1C):c.759+272A>G
NM_153676.4(USH1C):c.759+294C>T
NM_153676.4(USH1C):c.760-116G>A
NM_153676.4(USH1C):c.760-66T>C
NM_153676.4(USH1C):c.820-59C>T
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.966G>C (p.Arg322=)

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