ClinVar Miner

List of variants in gene USH1C reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775 0.03494
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_153676.4(USH1C):c.387+17C>T rs78718533 0.00969
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_153676.4(USH1C):c.2491-16C>T rs200919289 0.00159
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152 0.00081
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788 0.00070
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291 0.00007
NM_153676.4(USH1C):c.1020-19A>G rs760780173 0.00006
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro) rs142730611 0.00004
NM_153676.4(USH1C):c.1020-7G>A rs1554960567 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2695C>G (p.Arg899Gly) rs757572697
NM_153676.4(USH1C):c.701C>T (p.Pro234Leu) rs1554961433

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