ClinVar Miner

List of variants in gene EVC 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: 19
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00196
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570 0.00177
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00106
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00086
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_153717.3(EVC):c.2782+13dup rs770549797 0.00002
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.703-4del rs2152000379
NM_153717.3(EVC):c.802-17TTC[4] rs370315662

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