ClinVar Miner

List of variants in gene USH1C reported by OMIM

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.497-2del rs1480243085 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_153676.4(USH1C):c.1019+5G>C rs1592002789
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.2227-1G>A rs778110397
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.36+1G>T rs1403777293
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9] rs55983148

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