ClinVar Miner

List of variants in gene EVC2 studied for Inborn genetic diseases

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485 0.00011
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu) rs369153874 0.00011
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677 0.00006
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu) rs145071652 0.00004
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109 0.00002
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu) rs556658594 0.00002
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys) rs1222356750 0.00001
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr) rs1318313186 0.00001
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp) rs532778814 0.00001
NM_147127.5(EVC2):c.572A>C (p.Asn191Thr) rs754001550 0.00001
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
NM_147127.5(EVC2):c.139C>T (p.Pro47Ser) rs376923652
NM_147127.5(EVC2):c.1528T>G (p.Leu510Val)
NM_147127.5(EVC2):c.1631A>C (p.Gln544Pro)
NM_147127.5(EVC2):c.1645A>G (p.Ile549Val)
NM_147127.5(EVC2):c.178C>G (p.Leu60Val)
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
NM_147127.5(EVC2):c.2162T>C (p.Leu721Pro)
NM_147127.5(EVC2):c.2209A>G (p.Arg737Gly)
NM_147127.5(EVC2):c.2225C>T (p.Ser742Leu)
NM_147127.5(EVC2):c.2452G>A (p.Val818Met)
NM_147127.5(EVC2):c.2472G>C (p.Glu824Asp)
NM_147127.5(EVC2):c.2615G>A (p.Arg872Gln)
NM_147127.5(EVC2):c.2705A>G (p.Gln902Arg)
NM_147127.5(EVC2):c.2851G>A (p.Glu951Lys)
NM_147127.5(EVC2):c.2924C>T (p.Ala975Val)
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.308T>C (p.Leu103Ser)
NM_147127.5(EVC2):c.3157G>T (p.Asp1053Tyr)
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
NM_147127.5(EVC2):c.3193G>C (p.Asp1065His)
NM_147127.5(EVC2):c.3262C>T (p.His1088Tyr)
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu) rs150215092
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
NM_147127.5(EVC2):c.3379T>C (p.Tyr1127His)
NM_147127.5(EVC2):c.3409G>C (p.Ala1137Pro)
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
NM_147127.5(EVC2):c.344C>G (p.Thr115Ser)
NM_147127.5(EVC2):c.3526G>A (p.Gly1176Arg)
NM_147127.5(EVC2):c.3746T>C (p.Ile1249Thr)
NM_147127.5(EVC2):c.3782A>T (p.Glu1261Val)
NM_147127.5(EVC2):c.3811A>T (p.Lys1271Ter)
NM_147127.5(EVC2):c.398C>T (p.Ser133Phe)
NM_147127.5(EVC2):c.458A>G (p.Asp153Gly)
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.815G>A (p.Arg272Gln)
NM_147127.5(EVC2):c.847A>G (p.Ile283Val)

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