ClinVar Miner

List of variants in gene USH1C reported as pathogenic for not provided

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Total variants: 29
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HGVS dbSNP
NC_000011.9:g.(?_17522578)_(17523547_?)del
NC_000011.9:g.(?_17526184)_(17548597_?)del
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter)
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629
NM_153676.4(USH1C):c.1099G>T (p.Glu367Ter)
NM_153676.4(USH1C):c.1132_1133del (p.Trp378fs)
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter) rs1591999307
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1211-1125G>T rs1244378437
NM_153676.4(USH1C):c.1211-1170G>T
NM_153676.4(USH1C):c.1211-1175del rs1207247951
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.191del (p.Pro64fs)
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088
NM_153676.4(USH1C):c.238del (p.Arg80fs)
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter)
NM_153676.4(USH1C):c.36+1G>A
NM_153676.4(USH1C):c.375del (p.Ser125fs)
NM_153676.4(USH1C):c.491_492del (p.Val164fs)
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.497-2del rs1480243085
NM_153676.4(USH1C):c.586C>T (p.Arg196Ter)
NM_153676.4(USH1C):c.628A>T (p.Lys210Ter)
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370
NM_153676.4(USH1C):c.948_955del (p.Glu316fs)

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