ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 111
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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.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.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.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.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.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_001166136.2(EVC2):c.-13+87A>G rs3755840 0.06899
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.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.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.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
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.675A>G (p.Gly225=) rs74930168 0.00463
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
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.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.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
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_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+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.229-100del rs748171113
NM_147127.5(EVC2):c.229-114dup rs748171113
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.3557+211del rs34681984
NM_147127.5(EVC2):c.3558-330dup rs949664571
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_147127.5(EVC2):c.706+273A>C rs113294715

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