ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance for not specified

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=) rs11836796 0.00021
NM_025114.4(CEP290):c.853-9G>A rs974759127 0.00020
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545 0.00019
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931 0.00011
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025114.4(CEP290):c.3056A>G (p.Glu1019Gly) rs746666486 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.563A>T (p.Asp188Val) rs746511786 0.00002
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=) rs766265410 0.00002
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.1465C>A (p.Leu489Ile) rs1231028240 0.00001
NM_025114.4(CEP290):c.1517G>A (p.Arg506His) rs866571949 0.00001
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu) rs2038321332 0.00001
NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys) rs753350609 0.00001
NM_025114.4(CEP290):c.5573C>G (p.Thr1858Ser) rs761261059 0.00001
NM_025114.4(CEP290):c.5709+5G>A rs2035845308 0.00001
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr) rs535765861 0.00001
NM_025114.4(CEP290):c.726T>A (p.Asn242Lys) rs949161264 0.00001
NM_025114.4(CEP290):c.770A>G (p.Tyr257Cys) rs367772168 0.00001
NM_025114.4(CEP290):c.990G>A (p.Met330Ile) rs1388365600 0.00001
NM_025114.4(CEP290):c.2009G>A (p.Gly670Glu) rs2038917373
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.2404G>C (p.Glu802Gln) rs1326068086
NM_025114.4(CEP290):c.2427C>G (p.Asn809Lys)
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2861A>C (p.Asp954Ala) rs886049882
NM_025114.4(CEP290):c.3119T>C (p.Met1040Thr) rs2137369505
NM_025114.4(CEP290):c.4215G>A (p.Met1405Ile) rs797045457
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.4716A>C (p.Glu1572Asp) rs780960290
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5226+6T>G
NM_025114.4(CEP290):c.593G>T (p.Arg198Ile)
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569

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