ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_153717.3(EVC):c.802-242G>A rs73200154 0.02863
NM_153717.3(EVC):c.1098+293T>C rs1480974188 0.02409
NM_153717.3(EVC):c.1464+272C>T rs7667883 0.01536
NM_153717.3(EVC):c.1464+58G>A rs75743916 0.01534
NM_153717.3(EVC):c.2688+33A>G rs6845066 0.01448
NM_153717.3(EVC):c.2689-225G>A rs73077601 0.01424
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_153717.3(EVC):c.2098-294C>T rs112863125 0.01392
NM_153717.3(EVC):c.2098-229C>T rs78475125 0.01391
NM_153717.3(EVC):c.2097+40G>A rs80194963 0.01388
NM_153717.3(EVC):c.301-268T>C rs115771644 0.01380
NM_153717.3(EVC):c.174+151C>T rs75071940 0.01362
NM_153717.3(EVC):c.940-61_940-60insCTTTG rs144810134 0.01259
NM_153717.3(EVC):c.1777-96C>T rs58369380 0.01214
NM_153717.3(EVC):c.1564-240G>T rs115336887 0.01198
NM_153717.3(EVC):c.2305-45A>C rs114214189 0.01191
NM_153717.3(EVC):c.2783-271G>A rs74714062 0.01181
NM_153717.3(EVC):c.2688+272A>G rs75292798 0.01180
NM_153717.3(EVC):c.1563+217A>G rs115641097 0.01172
NM_153717.3(EVC):c.2688+301C>G rs76663613 0.01162
NM_153717.3(EVC):c.2561+258G>A rs73795095 0.00970
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_153717.3(EVC):c.1315+202G>A rs115275064 0.00945
NM_153717.3(EVC):c.1886+142C>T rs41269559 0.00842
NM_153717.3(EVC):c.2783-114A>G rs112443560 0.00828
NM_153717.3(EVC):c.1887-160A>C rs11729308 0.00794
NM_153717.3(EVC):c.2895-105A>C rs141031111 0.00787
NM_153717.3(EVC):c.1564-205G>T rs114987721 0.00779
NM_153717.3(EVC):c.2098-41G>A rs148639524 0.00773
NM_153717.3(EVC):c.1316-57C>G rs79758861 0.00769
NM_153717.3(EVC):c.301-218C>T rs144757429 0.00750
NM_153717.3(EVC):c.175-120C>T rs41269545 0.00747
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_153717.3(EVC):c.617+144G>A rs115477664 0.00723
NM_153717.3(EVC):c.2895-34G>A rs78968801 0.00703
NM_153717.3(EVC):c.2305-58G>A rs115678357 0.00678
NM_153717.3(EVC):c.384+282C>T rs116362495 0.00664
NM_153717.3(EVC):c.801+216T>C rs76877650 0.00661
NM_153717.3(EVC):c.2562-142C>G rs148894154 0.00642
NM_153717.3(EVC):c.2689-23del rs200834058 0.00593
NM_153717.3(EVC):c.385-332T>C rs115572273 0.00589
NM_153717.3(EVC):c.2689-285G>C rs144640786 0.00565
NM_153717.3(EVC):c.300+209A>G rs114795599 0.00565
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_153717.3(EVC):c.1564-258A>T rs112473947 0.00531
NM_153717.3(EVC):c.801+223T>C rs116167025 0.00529
NM_153717.3(EVC):c.2561+294C>T rs73204293 0.00498
NM_153717.3(EVC):c.2561+134C>T rs141619432 0.00459
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.1315+189C>T rs147951625 0.00436
NM_153717.3(EVC):c.1098+280A>G rs552568788 0.00415
NM_153717.3(EVC):c.939+50G>A rs144142557 0.00328
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570 0.00177
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00120
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_153717.3(EVC):c.618-22C>T rs2291156 0.00062
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281 0.00055
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_153717.3(EVC):c.*2310G>A rs539844915 0.00041
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00014
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908 0.00005
NM_153717.3(EVC):c.219G>A (p.Ala73=) rs759816860 0.00004
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.2457G>A (p.Arg819=) rs1243308266 0.00003
NM_153717.3(EVC):c.1957G>A (p.Gly653Ser) rs762716384 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.2782+13dup rs770549797 0.00001
NM_153717.3(EVC):c.57C>T (p.Asp19=) rs1467149000 0.00001
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.1098+288_1098+289insCCCACCCA rs1448895713
NM_153717.3(EVC):c.1315+253C>T rs116816567
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1776+199C>T rs112126279
NM_153717.3(EVC):c.1979C>T (p.Thr660Met)
NM_153717.3(EVC):c.2304+60A>C rs73077517
NM_153717.3(EVC):c.2305-259_2305-258del rs35554149
NM_153717.3(EVC):c.2561+90G>A rs112874041
NM_153717.3(EVC):c.2562-70CTCC[6] rs1177063514
NM_153717.3(EVC):c.2601A>G (p.Pro867=)
NM_153717.3(EVC):c.703-265C>T rs149486305
NM_153717.3(EVC):c.703-4del rs2152000379
NM_153717.3(EVC):c.801+93A>C rs58903969
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572

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