ClinVar Miner

List of variants in gene EVC2 reported as uncertain significance for not provided

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Total variants: 73
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HGVS dbSNP gnomAD frequency
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.1823G>A (p.Arg608His) rs145693546 0.00129
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564 0.00030
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 0.00022
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu) rs369153874 0.00011
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920 0.00010
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_147127.5(EVC2):c.129C>T (p.Gly43=) rs985034372 0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014 0.00005
NM_147127.5(EVC2):c.446G>A (p.Arg149His) rs202198132 0.00005
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912 0.00004
NM_147127.5(EVC2):c.707T>C (p.Val236Ala) rs764307512 0.00004
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn) rs1191013607 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala) rs142952894 0.00003
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln) rs770644264 0.00002
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser) rs200622704 0.00002
NM_147127.5(EVC2):c.2180G>A (p.Arg727His) rs140363692 0.00002
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109 0.00002
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248 0.00002
NM_147127.5(EVC2):c.705A>G (p.Gln235=) rs768647764 0.00002
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00001
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly) rs766349604 0.00001
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.2152G>A (p.Gly718Ser) rs762306367 0.00001
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp) rs532778814 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2677G>A (p.Asp893Asn) rs1553830511 0.00001
NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe) rs762404021 0.00001
NM_147127.5(EVC2):c.2791C>T (p.Leu931Phe) rs749339159 0.00001
NM_147127.5(EVC2):c.3020A>C (p.Lys1007Thr) rs727503920 0.00001
NM_147127.5(EVC2):c.3570C>G (p.Ser1190Arg) rs763892029 0.00001
GRCh37/hg19 4p16.2(chr4:5656731-5693774)x3
NM_147127.5(EVC2):c.1099A>C (p.Ile367Leu)
NM_147127.5(EVC2):c.1106C>G (p.Ser369Cys) rs2108895919
NM_147127.5(EVC2):c.139C>T (p.Pro47Ser) rs376923652
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val) rs143662104
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
NM_147127.5(EVC2):c.2301G>A (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2869G>C (p.Glu957Gln) rs1560140198
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
NM_147127.5(EVC2):c.3358C>T (p.Gln1120Ter) rs951561591
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His) rs779684008
NM_147127.5(EVC2):c.3480T>G (p.Asp1160Glu) rs2108770792
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
NM_147127.5(EVC2):c.3505_3507delinsTAT (p.His1169Tyr) rs2108770735
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu) rs144511301
NM_147127.5(EVC2):c.3610A>T (p.Ile1204Leu)
NM_147127.5(EVC2):c.3703T>C (p.Phe1235Leu) rs794727367
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg) rs1399603571
NM_147127.5(EVC2):c.3863C>T (p.Pro1288Leu)
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del) rs752839237
NM_147127.5(EVC2):c.3877A>T (p.Lys1293Ter)
NM_147127.5(EVC2):c.419_424del (p.Phe140_Arg142delinsTer) rs1560233040
NM_147127.5(EVC2):c.499_500del (p.Ile167fs) rs1560230203
NM_147127.5(EVC2):c.568A>G (p.Asn190Asp)
NM_147127.5(EVC2):c.710del (p.Gly237fs) rs1560223934
NM_147127.5(EVC2):c.874C>G (p.Leu292Val) rs772759691

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