ClinVar Miner

List of variants in gene USH1C reported by Ambry Genetics

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn) rs138123405 0.00019
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp) rs143803480 0.00016
NM_153676.4(USH1C):c.2312G>T (p.Gly771Val) rs763628668 0.00007
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) rs140313023 0.00001
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp) rs749821587 0.00001
NM_005709.4(USH1C):c.1237G>A (p.Glu413Lys)
NM_153676.4(USH1C):c.1066T>C (p.Tyr356His)
NM_153676.4(USH1C):c.1079T>C (p.Met360Thr)
NM_153676.4(USH1C):c.1151T>C (p.Leu384Pro)
NM_153676.4(USH1C):c.158C>G (p.Pro53Arg)
NM_153676.4(USH1C):c.210C>G (p.His70Gln)
NM_153676.4(USH1C):c.2231C>T (p.Thr744Ile)
NM_153676.4(USH1C):c.2246T>C (p.Met749Thr)
NM_153676.4(USH1C):c.2348C>T (p.Ala783Val)
NM_153676.4(USH1C):c.2423A>C (p.Lys808Thr) rs1849310143
NM_153676.4(USH1C):c.2513C>T (p.Ala838Val)
NM_153676.4(USH1C):c.295G>A (p.Gly99Ser)
NM_153676.4(USH1C):c.295G>T (p.Gly99Cys) rs370054635
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.527C>T (p.Pro176Leu) rs1461558857
NM_153676.4(USH1C):c.700C>T (p.Pro234Ser)
NM_153676.4(USH1C):c.760A>C (p.Ile254Leu)

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