ClinVar Miner

List of variants in gene USH1C reported as pathogenic by OMIM

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Total variants: 12
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NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_153676.4(USH1C):c.1019+5G>C rs1592002789
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.2227-1G>A rs778110397
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.36+1G>T rs1403777293
NM_153676.4(USH1C):c.497-2del rs1480243085
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370
USH1C, 1-BP DEL, 1220G
USH1C, IVS5DS, G-A, +1

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