ClinVar Miner

List of variants in gene USH1C reported as pathogenic for Deafness, autosomal recessive 18

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Total variants: 7
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HGVS dbSNP
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005709.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.1019+5G>C rs1592002789
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.2491-1G>T rs1565017125
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370

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