ClinVar Miner

List of variants in gene EVC2 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.284-267C>T rs73200126 0.02072
NM_147127.5(EVC2):c.519+192G>T rs181679152 0.01781
NM_147127.5(EVC2):c.2046+147T>C rs114349041 0.01543
NM_147127.5(EVC2):c.3057+161C>T rs76081066 0.01393
NM_147127.5(EVC2):c.1006-268C>T rs73065629 0.01340
NM_147127.5(EVC2):c.2706+179T>C rs115712574 0.01252
NM_147127.5(EVC2):c.2706+151C>T rs116207883 0.01249
NM_147127.5(EVC2):c.3659+334C>T rs140714919 0.01105
NM_147127.5(EVC2):c.1006-94G>C rs76139256 0.01082
NM_147127.5(EVC2):c.3557+138dup rs201389445 0.01005
NM_147127.5(EVC2):c.3557+255T>C rs149416590 0.01005
NM_147127.5(EVC2):c.3557+184C>T rs144778121 0.01000
NM_147127.5(EVC2):c.3361-89C>A rs116392680 0.00965
NM_147127.5(EVC2):c.284-53A>G rs77216974 0.00949
NM_147127.5(EVC2):c.284-35G>A rs114046377 0.00945
NM_147127.5(EVC2):c.3361-196G>A rs76595482 0.00928
NM_147127.5(EVC2):c.3360+221T>C rs115084644 0.00926
NM_147127.5(EVC2):c.2046+212A>G rs116726301 0.00921
NM_147127.5(EVC2):c.2047-221A>G rs142248443 0.00854
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_147127.5(EVC2):c.229-162C>T rs140170464 0.00790
NM_147127.5(EVC2):c.817-168C>T rs80339770 0.00783
NM_147127.5(EVC2):c.706+173A>G rs28483214 0.00759
NM_147127.5(EVC2):c.2706+268G>A rs183231166 0.00668
NM_147127.5(EVC2):c.229-151A>C rs112470838 0.00655
NM_147127.5(EVC2):c.2830-260A>G rs115587647 0.00593
NM_147127.5(EVC2):c.3660-224T>C rs78749463 0.00577
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_147127.5(EVC2):c.1886+68C>T rs114678224 0.00565
NM_147127.5(EVC2):c.3557+296C>T rs116824914 0.00565
NM_147127.5(EVC2):c.2706+64A>G rs146043610 0.00515
NM_147127.5(EVC2):c.1471-44G>A rs111826210 0.00485
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_147127.5(EVC2):c.2830-128G>A rs80165535 0.00449
NM_147127.5(EVC2):c.707-45C>T rs116453365 0.00433
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_147127.5(EVC2):c.1711-230C>G rs140803712 0.00400
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 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.2707-276G>A rs182662440 0.00323
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.1471-7T>C rs150842594 0.00319
NM_147127.5(EVC2):c.*90C>T rs115810595 0.00287
NM_147127.5(EVC2):c.*207A>G rs73072282 0.00270
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.2487G>A (p.Glu829=) rs16837501 0.00165
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
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.2244C>T (p.Thr748=) rs146588335 0.00090
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327 0.00051
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.2304G>C (p.Val768=) rs139936564 0.00030
NM_147127.5(EVC2):c.2958C>T (p.Thr986=) rs567792423 0.00019
NM_147127.5(EVC2):c.-17G>C rs1048547708 0.00018
NM_147127.5(EVC2):c.3858C>T (p.His1286=) rs368103321 0.00011
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584 0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_147127.5(EVC2):c.297T>G (p.Leu99=) rs780711879 0.00008
NM_147127.5(EVC2):c.520-6C>T rs747479747 0.00008
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala) rs202210260 0.00006
NM_147127.5(EVC2):c.1677T>C (p.Ala559=) rs761646676 0.00006
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.2076C>T (p.Ser692=) rs138556477 0.00005
NM_147127.5(EVC2):c.2157C>T (p.Ala719=) rs777141609 0.00005
NM_147127.5(EVC2):c.2556G>A (p.Arg852=) rs762781823 0.00005
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=) rs777897646 0.00005
NM_147127.5(EVC2):c.707-20_707-19del rs777343377 0.00005
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_147127.5(EVC2):c.30C>T (p.Pro10=) rs1193570001 0.00004
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539 0.00003
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=) rs774269538 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_147127.5(EVC2):c.2364C>T (p.Ala788=) rs575617564 0.00001
NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe) rs762404021 0.00001
NM_147127.5(EVC2):c.2925G>A (p.Ala975=) rs760612784 0.00001
NM_147127.5(EVC2):c.551G>A (p.Arg184His) rs771841841 0.00001
NM_147127.5(EVC2):c.1710+217dup rs71227270
NM_147127.5(EVC2):c.1710+224C>A rs112417127
NM_147127.5(EVC2):c.1710+224C>G rs112417127
NM_147127.5(EVC2):c.1710+224_1710+225insCA rs199666307
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.229-251T>G rs190518332
NM_147127.5(EVC2):c.2649G>T (p.Ala883=) rs751714104
NM_147127.5(EVC2):c.2829+29del rs373232667
NM_147127.5(EVC2):c.2830-174G>A rs116241937
NM_147127.5(EVC2):c.2830-65_2830-62del rs113324162
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3360+177A>G rs77671911
NM_147127.5(EVC2):c.3361-145A>T rs76244489
NM_147127.5(EVC2):c.3557+201_3557+202dup rs34681984
NM_147127.5(EVC2):c.3558-314del rs949664571
NM_147127.5(EVC2):c.3558G>A (p.Arg1186=)
NM_147127.5(EVC2):c.450+81G>C rs143715705
NM_147127.5(EVC2):c.706+219_706+222del rs376083261
NM_147127.5(EVC2):c.707-273G>A rs141287944
NM_147127.5(EVC2):c.871-257C>T rs78601416

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