ClinVar Miner

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

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
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.2883A>C (p.Gly961=) rs149188988 0.00205
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.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
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.707-20_707-19del rs777343377 0.00005
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_147127.5(EVC2):c.451-7del rs1290670058 0.00001
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.3272+8G>A rs201800139

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