ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110 0.52503
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464 0.50535
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214 0.00622
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_001142800.2(EYS):c.7578+18C>T rs147210136 0.00376
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser) rs370950723 0.00042
NM_001142800.2(EYS):c.2023+14_2023+15dup rs35045551
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs) rs1582929649
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.7748G>C (p.Arg2583Pro) rs564020009
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543

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