ClinVar Miner

List of variants in gene EVC2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.3272+83A>G rs6840591 0.97488
NM_147127.5(EVC2):c.520-250T>G rs10937662 0.93354
NM_147127.5(EVC2):c.450+292G>C rs6810418 0.93272
NM_147127.5(EVC2):c.520-129G>A rs10937661 0.93181
NM_147127.5(EVC2):c.3659+237A>G rs4234707 0.92768
NM_147127.5(EVC2):c.1006-288T>G rs4689274 0.78514
NM_147127.5(EVC2):c.1145+178T>A rs13125075 0.72776
NM_147127.5(EVC2):c.871-185G>A rs4298088 0.63696
NM_147127.5(EVC2):c.707-57T>C rs998092 0.62867
NM_147127.5(EVC2):c.816+173C>T rs957727 0.62830
NM_147127.5(EVC2):c.816+130G>A rs957726 0.62826
NM_147127.5(EVC2):c.3360+272A>G rs7670299 0.47038
NM_147127.5(EVC2):c.1710+284T>C rs1013601 0.46292
NM_147127.5(EVC2):c.1710+315C>T rs1013600 0.46283
NM_147127.5(EVC2):c.1471-236G>A rs7674131 0.46211
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_147127.5(EVC2):c.1146-191A>G rs4577515 0.42315
NM_147127.5(EVC2):c.870+247A>T rs6836026 0.37896
NM_147127.5(EVC2):c.2829+203C>G rs4560347 0.37725
NM_147127.5(EVC2):c.2707-24A>G rs10025164 0.37451
NM_147127.5(EVC2):c.2707-98C>A rs10032860 0.37407
NC_000004.12:g.5709607G>A rs9790440 0.35696
NM_147127.5(EVC2):c.451-299G>A rs28531831 0.34874
NM_147127.5(EVC2):c.1006-228C>T rs4689273 0.34453
NM_147127.2(EVC2):c.-104T>C rs2013183 0.33784
NC_000004.12:g.5709641G>A rs3774854 0.32501
NM_147127.5(EVC2):c.871-295A>G rs4524330 0.32115
NM_147127.5(EVC2):c.3272+220G>A rs62297462 0.28941
NM_147127.5(EVC2):c.706+300G>A rs67064159 0.28939
NM_147127.5(EVC2):c.3557+67A>G rs12508361 0.28659
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_147127.5(EVC2):c.451-52G>A rs35705473 0.26495
NM_147127.5(EVC2):c.283+223C>T rs13126806 0.24405
NM_147127.5(EVC2):c.284-155A>G rs11936402 0.24206
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_147127.5(EVC2):c.870+176C>T rs10937658 0.21550
NM_147127.5(EVC2):c.2047-182A>G rs35325839 0.19643
NM_147127.5(EVC2):c.2502-240G>A rs57126574 0.17780
NM_147127.5(EVC2):c.707-75G>A rs960055 0.17003
NM_147127.5(EVC2):c.707-51C>T rs13129960 0.15254
NM_147127.5(EVC2):c.1006-330T>G rs17687543 0.15004
NM_147127.5(EVC2):c.229-250G>C rs12503011 0.14040
NM_147127.5(EVC2):c.2706+265T>C rs28546301 0.13072
NM_147127.5(EVC2):c.2502-204C>T rs57824419 0.13024
NM_147127.5(EVC2):c.2706+266G>A rs28489765 0.13015
NM_147127.5(EVC2):c.2502-106G>A rs28379106 0.12966
NM_147127.5(EVC2):c.1006-109del rs113939285 0.11697
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_147127.5(EVC2):c.1886+162C>T rs79426828 0.10758
NM_147127.5(EVC2):c.2501+41G>A rs60896170 0.10412
NM_147127.5(EVC2):c.3360+142C>G rs16837475 0.08488
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_147127.5(EVC2):c.1886+29G>A rs57185424 0.08380
NM_147127.5(EVC2):c.3361-172C>T rs56739291 0.08259
NM_147127.5(EVC2):c.3660-111C>A rs73794635 0.08026
NM_147127.5(EVC2):c.1711-20T>G rs58869180 0.07408
NM_001166136.2(EVC2):c.-13+87A>G rs3755840 0.06899
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_147127.5(EVC2):c.1471-68C>T rs76589199 0.06622
NM_147127.5(EVC2):c.3058-177C>T rs112812794 0.05249
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_147127.5(EVC2):c.284-36C>T rs16837573 0.04382
NM_147127.5(EVC2):c.1006-54C>T rs73798106 0.04256
NM_147127.5(EVC2):c.1145+195T>A rs77003809 0.04105
NM_147127.5(EVC2):c.2707-147C>G rs80101274 0.04083
NM_147127.5(EVC2):c.2707-137C>T rs74366739 0.04077
NM_147127.5(EVC2):c.1710+236G>C rs115944729 0.03720
NM_147127.5(EVC2):c.283+129A>G rs7656937 0.03668
NM_147127.5(EVC2):c.2047-81T>C rs73198155 0.03157
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_147127.5(EVC2):c.450+31A>G rs55801084 0.02796
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_147127.5(EVC2):c.284-98G>T rs79024204 0.02637
NM_147127.5(EVC2):c.2501+154C>T rs79974556 0.02367
NM_147127.5(EVC2):c.2501+276A>G rs73198152 0.02203
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_147127.5(EVC2):c.284-267C>T rs73200126 0.02072
NM_147127.5(EVC2):c.1145+34_1145+35del rs147183830 0.01929
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
NM_147127.5(EVC2):c.2830-198C>T rs113847914 0.01850
NM_147127.5(EVC2):c.229-291T>G rs144902778 0.01846
NM_147127.5(EVC2):c.2501+148A>G rs73794678 0.01831
NM_147127.5(EVC2):c.2829+173G>A rs73794666 0.01801
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.3040C>G (p.Leu1014Val) rs75829835 0.01478
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.692A>G (p.Lys231Arg) rs114024753 0.00863
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.2707-5T>C rs186058156 0.00650
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.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_147127.5(EVC2):c.2706+64A>G rs146043610 0.00515
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
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.3561A>G (p.Lys1187=) rs76523157 0.00388
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.2621G>A (p.Arg874Gln) rs114764023 0.00325
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.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_147127.5(EVC2):c.*90C>T rs115810595 0.00287
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.817-43C>G rs77250194 0.00170
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
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.1823G>A (p.Arg608His) rs145693546 0.00129
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_147127.5(EVC2):c.707-18G>A rs144093697 0.00097
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 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.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279 0.00038
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.3702A>G (p.Ile1234Met) rs375566943 0.00022
NM_147127.5(EVC2):c.-17G>C rs1048547708 0.00018
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=) rs374038474 0.00014
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu) rs369153874 0.00011
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_147127.5(EVC2):c.520-6C>T rs747479747 0.00008
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 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.221G>A (p.Ser74Asn) rs1191013607 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser) rs200622704 0.00002
NM_147127.5(EVC2):c.2046+20A>C rs777490147 0.00002
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val) rs750108569 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248 0.00002
NM_147127.5(EVC2):c.1542C>T (p.Leu514=) rs376252506 0.00001
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly) rs766349604 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2677G>A (p.Asp893Asn) rs1553830511 0.00001
NM_147127.5(EVC2):c.2791C>T (p.Leu931Phe) rs749339159 0.00001
NM_001166136.2(EVC2):c.-13+167C>T rs6821316
NM_147127.5(EVC2):c.1146-241A>T rs114025234
NM_147127.5(EVC2):c.1710+104A>C rs76624078
NM_147127.5(EVC2):c.1710+217_1710+218dup rs71227270
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.1710+225del rs71227270
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-19T>G rs1716317519
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val) rs143662104
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
NM_147127.5(EVC2):c.229-100del rs748171113
NM_147127.5(EVC2):c.229-114dup rs748171113
NM_147127.5(EVC2):c.229-251T>G rs190518332
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter) rs981099037
NM_147127.5(EVC2):c.2706+7T>G rs1553830468
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.2869G>C (p.Glu957Gln) rs1560140198
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.3374dup (p.Ser1126fs)
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
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.3557+201_3557+202dup rs34681984
NM_147127.5(EVC2):c.3557+211del rs34681984
NM_147127.5(EVC2):c.3558-314del rs949664571
NM_147127.5(EVC2):c.3558-330dup rs949664571
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg) rs1399603571
NM_147127.5(EVC2):c.3762T>G (p.Pro1254=) rs1260164978
NM_147127.5(EVC2):c.3779del (p.Ala1260fs) rs1577093203
NM_147127.5(EVC2):c.3877A>T (p.Lys1293Ter)
NM_147127.5(EVC2):c.450+81G>C rs143715705
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_147127.5(EVC2):c.706+219_706+222del rs376083261
NM_147127.5(EVC2):c.706+273A>C rs113294715
NM_147127.5(EVC2):c.707-273G>A rs141287944
NM_147127.5(EVC2):c.864dup (p.Val289fs) rs1553849875
NM_147127.5(EVC2):c.871-257C>T rs78601416

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