ClinVar Miner

List of variants in gene USH1C reported by OMIM

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Total variants: 13
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HGVS dbSNP
NM_005709.3(USH1C):c.216G>A (p.Val72=) rs151045328
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005709.3(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_005709.3(USH1C):c.91C>T (p.Arg31Ter) rs121908370
NM_153676.3(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.3(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.3(USH1C):c.496+59_479-35GAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG[7]GAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG[2] rs55983148
USH1C, 1-BP DEL, 1220G
USH1C, IVS12DS, G-C, +5
USH1C, IVS16AS, G-T, -1
USH1C, IVS1DS, G-T, +1
USH1C, IVS5AS, A DEL, -2
USH1C, IVS5DS, G-A, +1

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