ClinVar Miner

List of variants in gene EVC reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1886+172C>A rs4689303 0.99999
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_153717.3(EVC):c.*2417T>C rs6848370 0.75819
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72808
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71896
NM_153717.3(EVC):c.2449+83C>T rs1031918 0.69724
NM_153717.3(EVC):c.1886+266G>A rs13101471 0.68428
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_153717.3(EVC):c.1886+253C>T rs13103000 0.61295
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60306
NM_153717.3(EVC):c.*931T>C rs6840435 0.56438
NM_153717.3(EVC):c.802-311T>C rs1351357 0.56398
NM_153717.3(EVC):c.939+224C>T rs1001180 0.56133
NM_153717.3(EVC):c.939+63C>A rs13145958 0.55696
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_153717.3(EVC):c.1098+51A>T rs4688961 0.52726
NM_153717.3(EVC):c.300+213C>T rs4539985 0.50006
NM_153717.3(EVC):c.1776+206C>G rs2878427 0.48655
NM_153717.3(EVC):c.1316-139G>C rs7660793 0.44434
NM_153717.3(EVC):c.*2617G>A rs3733186 0.41933
NM_153717.3(EVC):c.*2713C>T rs3733188 0.41663
NM_153717.3(EVC):c.940-71G>A rs4689311 0.41251
NM_153717.3(EVC):c.940-91G>A rs4689312 0.41054
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_153717.3(EVC):c.1098+123A>G rs13143108 0.40131
NM_153717.3(EVC):c.1098+194C>T rs13116719 0.39190
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_153717.3(EVC):c.1887-122G>A rs2291152 0.31976
NM_153717.3(EVC):c.702+154G>C rs36091422 0.30585
NM_153717.3(EVC):c.2561+221A>G rs2279251 0.29809
NM_153717.3(EVC):c.2450-91T>C rs1552057 0.29056
NM_153717.3(EVC):c.1316-220G>A rs752061 0.28445
NM_153717.3(EVC):c.2449+82A>G rs2306399 0.28404
NM_153717.3(EVC):c.2097+118G>A rs12509231 0.27796
NM_153717.3(EVC):c.1563+1771A>G rs6828631 0.27077
NM_153717.3(EVC):c.1465-285A>G rs12499446 0.26870
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_153717.3(EVC):c.2305-44C>T rs2306400 0.26578
NM_153717.3(EVC):c.*2268G>A rs4261923 0.26298
NM_153717.3(EVC):c.2895-114A>G rs2279247 0.26058
NM_153717.3(EVC):c.2895-249T>C rs2279248 0.24744
NM_153717.3(EVC):c.1098+231C>T rs199978696 0.21529
NM_153717.3(EVC):c.1098+230C>G rs56236353 0.21400
NM_153717.3(EVC):c.939+114G>A rs28609792 0.21365
NM_153717.3(EVC):c.702+141C>T rs2291155 0.21152
NM_153717.3(EVC):c.*1318G>C rs67547790 0.21125
NM_153717.3(EVC):c.1098+232A>G rs56287837 0.20815
NM_153717.3(EVC):c.801+240C>T rs1480169 0.20327
NM_153717.3(EVC):c.1465-47A>C rs4642178 0.20086
NM_153717.3(EVC):c.1464+236G>T rs9637548 0.19694
NM_153717.3(EVC):c.618-196C>G rs73795032 0.18001
NM_153717.3(EVC):c.301-80G>A rs2276875 0.17248
NM_153717.3(EVC):c.1563+1897C>T rs56328334 0.16475
NM_153717.3(EVC):c.174+238T>A rs3755844 0.16057
NM_153717.3(EVC):c.174+31G>C rs2276874 0.15083
NM_153717.3(EVC):c.2894+248A>T rs2279249 0.14782
NM_153717.3(EVC):c.1098+244_1098+311del rs1560330268 0.14696
NM_153717.3(EVC):c.940-61C>T rs4688964 0.14632
NM_153717.3(EVC):c.1464+177T>A rs2302074 0.14282
NM_153717.3(EVC):c.*748T>C rs62297707 0.13967
NM_153717.3(EVC):c.*210C>A rs16837692 0.13049
NM_153717.3(EVC):c.*1218C>T rs12501119 0.13032
NM_153717.3(EVC):c.*3165T>C rs3755847 0.12593
NM_153717.3(EVC):c.*2680G>A rs3733187 0.12188
NM_153717.3(EVC):c.*2871C>T rs3733189 0.11820
NM_153717.3(EVC):c.940-266C>T rs73200158 0.11530
NM_153717.3(EVC):c.174+303C>T rs3755845 0.11358
NM_153717.3(EVC):c.2561+144G>T rs62297684 0.11058
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_153717.3(EVC):c.940-259T>G rs57112774 0.10165
NM_153717.3(EVC):c.1315+271C>T rs11731603 0.10108
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.10006
NM_153717.3(EVC):c.2097+111A>C rs76138881 0.09059
NM_153717.3(EVC):c.618-121G>A rs75063475 0.08996
NM_153717.3(EVC):c.1886+202G>C rs41269561 0.08534
NM_153717.3(EVC):c.2782+145G>T rs28722043 0.08527
NM_153717.3(EVC):c.384+41C>T rs113870218 0.08516
NM_153717.3(EVC):c.1098+272A>G rs567230595 0.08270
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_153717.3(EVC):c.385-174G>A rs1871587 0.07869
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_153717.3(EVC):c.617+133G>C rs41269553 0.07170
NM_153717.3(EVC):c.2688+330C>T rs28479075 0.06937
NM_153717.3(EVC):c.2783-269A>G rs9991936 0.06936
NM_153717.3(EVC):c.802-313A>G rs28600172 0.06727
NM_153717.3(EVC):c.*2009T>C rs79152885 0.06541
NM_153717.3(EVC):c.*53T>C rs7676531 0.06533
NM_153717.3(EVC):c.2782+173G>T rs113039000 0.06505
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_153717.3(EVC):c.617+154A>G rs55634350 0.06419
NM_153717.3(EVC):c.1098+119del rs150500409 0.06404
NM_153717.3(EVC):c.702+27C>G rs16837599 0.06199
NM_153717.3(EVC):c.2449+317A>T rs7694192 0.06033
NM_153717.3(EVC):c.1098+297C>T rs13116942 0.06011
NM_153717.3(EVC):c.1099-144G>T rs60938393 0.05978
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_153717.3(EVC):c.1098+277C>T rs62300389 0.05879
NM_153717.3(EVC):c.385-170T>A rs28718969 0.05370
NM_153717.3(EVC):c.939+84A>G rs16837617 0.05326
NM_153717.3(EVC):c.801+231del rs140940968 0.04155
NM_153717.3(EVC):c.*908G>A rs13119698 0.03897
NM_153717.3(EVC):c.2562-45T>C rs1249571815 0.03730
NM_153717.3(EVC):c.2782+264A>G rs78275936 0.03258
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03038
NM_153717.3(EVC):c.175-236G>T rs79190209 0.02934
NM_153717.3(EVC):c.940-68C>T rs56193413 0.02883
NM_153717.3(EVC):c.*1060A>C rs71599848 0.02627
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02598
NM_153717.3(EVC):c.*1375A>G rs114994758 0.02309
NM_153717.3(EVC):c.*1083T>G rs71599850 0.01938
NM_153717.3(EVC):c.1887-90C>T rs111250893 0.01818
NM_153717.3(EVC):c.*2277G>C rs28452978 0.01778
NM_153717.3(EVC):c.1563+1754G>A rs115269936 0.01620
NM_153717.3(EVC):c.2450-207C>T rs73077529 0.01618
NM_153717.3(EVC):c.*615C>T rs73079505 0.01604
NM_153717.3(EVC):c.*1849C>G rs75438311 0.01539
NM_153717.3(EVC):c.*820C>T rs137860758 0.01469
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_153717.3(EVC):c.*1700C>T rs74690944 0.01179
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01090
NM_153717.3(EVC):c.385-16C>T rs113571700 0.01046
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00921
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00780
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00661
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00547
NM_153717.3(EVC):c.*2132A>G rs11939264 0.00499
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.*2708G>A rs79112570 0.00424
NM_153717.3(EVC):c.*2285C>G rs145479436 0.00352
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00328
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_153717.3(EVC):c.*1185A>G rs113728951 0.00281
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00211
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00176
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00097
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00086
NM_153717.3(EVC):c.*2466G>A rs572400824 0.00077
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00075
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.1428G>C (p.Glu476Asp) rs571637567 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_153717.3(EVC):c.154C>T (p.Arg52Cys) rs932851648 0.00024
NM_153717.3(EVC):c.91G>A (p.Ala31Thr) rs952757087 0.00023
NM_153717.3(EVC):c.1777-6G>A rs565093715 0.00017
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.940-12C>G rs200707006 0.00014
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00013
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958 0.00011
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_153717.3(EVC):c.*1648T>C rs371788560 0.00004
NM_153717.3(EVC):c.771A>G (p.Leu257=) rs756340487 0.00003
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_153717.3(EVC):c.2449+16del rs202073499 0.00002
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625 0.00001
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr) rs748268896 0.00001
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.1098+131del rs201170910
NM_153717.3(EVC):c.1098+229_1098+230insGTGTCCATCCATCTAC rs143227724
NM_153717.3(EVC):c.1098+260ATCC[6] rs202244004
NM_153717.3(EVC):c.1098+277_1098+280del rs200613491
NM_153717.3(EVC):c.1099-167G>C rs6810769
NM_153717.3(EVC):c.1099-208C>A rs6812234
NM_153717.3(EVC):c.1099-208C>T rs6812234
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1465-44del rs5855888
NM_153717.3(EVC):c.1465-44dup rs5855888
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1563+185A>G rs12499655
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2098-178_2098-168del rs3830226
NM_153717.3(EVC):c.2305-260_2305-258del rs35554149
NM_153717.3(EVC):c.2305-261_2305-258del rs35554149
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+15dup rs398092136
NM_153717.3(EVC):c.2561+232del rs3214939
NM_153717.3(EVC):c.2562-3del rs780164400
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2782+103C>T rs3733185
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.301-171C>T rs111861127
NM_153717.3(EVC):c.385-84G>T rs1871586
NM_153717.3(EVC):c.71C>A (p.Ala24Glu) rs966782465
NM_153717.3(EVC):c.802-12_802-11del rs372546602
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153717.3(EVC):c.802-220del rs112283154
NM_153717.3(EVC):c.802-221_802-220del rs112283154
NM_153717.3(EVC):c.802-224_802-220dup rs112283154
NM_153717.3(EVC):c.802-225_802-220dup rs112283154
NM_153717.3(EVC):c.939+40del rs3214258
NM_153717.3(EVC):c.940-59_940-55dup rs58769270

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