ClinVar Miner

List of variants in gene EVC2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.451-52G>A rs35705473 0.26495
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_147127.5(EVC2):c.2707-66C>T rs112863054 0.01258
NM_147127.5(EVC2):c.3361-89C>A rs116392680 0.00965
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379 0.00212
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 0.00022
NM_147127.5(EVC2):c.3858C>T (p.His1286=) rs368103321 0.00011
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584 0.00009
NM_147127.5(EVC2):c.2079C>T (p.Val693=) rs201171209 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_147127.5(EVC2):c.2556G>A (p.Arg852=) rs762781823 0.00005
NM_147127.5(EVC2):c.446G>A (p.Arg149His) rs202198132 0.00005
NM_147127.5(EVC2):c.707-20_707-19del rs777343377 0.00005
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala) rs142952894 0.00003
NM_147127.5(EVC2):c.2180G>A (p.Arg727His) rs140363692 0.00002
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn) rs757316188 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802 0.00001
NM_147127.5(EVC2):c.3570C>G (p.Ser1190Arg) rs763892029 0.00001
NM_147127.5(EVC2):c.451-7del rs1290670058 0.00001
NM_147127.5(EVC2):c.1110del (p.Glu371fs) rs1553846613
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter) rs1715768907
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His) rs779684008
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del) rs752839237
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359

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