ClinVar Miner

List of variants in gene EVC reported by Breakthrough Genomics, Breakthrough Genomics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
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.939+10A>G rs2286342 0.67122
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
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.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.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.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.2450-91T>C rs1552057 0.29056
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.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.939+114G>A rs28609792 0.21365
NM_153717.3(EVC):c.*1318G>C rs67547790 0.21125
NM_153717.3(EVC):c.*1112T>C rs28460555 0.21076
NM_153717.3(EVC):c.1465-47A>C rs4642178 0.20086
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+31G>C rs2276874 0.15083
NM_153717.3(EVC):c.2894+248A>T rs2279249 0.14782
NM_153717.3(EVC):c.940-61C>T rs4688964 0.14632
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.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.384+41C>T rs113870218 0.08516
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.*2009T>C rs79152885 0.06541
NM_153717.3(EVC):c.*53T>C rs7676531 0.06533
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
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.1099-144G>T rs60938393 0.05978
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
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.1096C>T (p.Leu366=) rs6854138 0.03038
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.*1083T>G rs71599850 0.01938
NM_153717.3(EVC):c.1887-90C>T rs111250893 0.01818
NM_153717.3(EVC):c.1563+1754G>A rs115269936 0.01620
NM_153717.3(EVC):c.*1849C>G rs75438311 0.01539
NM_153717.3(EVC):c.1464+58G>A rs75743916 0.01534
NM_153717.3(EVC):c.*1123A>G rs112378896 0.01481
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.301-268T>C rs115771644 0.01388
NM_153717.3(EVC):c.2688+33A>G rs6845066 0.01368
NM_153717.3(EVC):c.2097+40G>A rs80194963 0.01301
NM_153717.3(EVC):c.174+151C>T rs75071940 0.01272
NM_153717.3(EVC):c.1777-96C>T rs58369380 0.01214
NM_153717.3(EVC):c.2305-45A>C rs114214189 0.01191
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.*798T>G rs13101313 0.01027
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.2783-114A>G rs112443560 0.00776
NM_153717.3(EVC):c.2098-41G>A rs148639524 0.00773
NM_153717.3(EVC):c.*922G>A rs71599840 0.00749
NM_153717.3(EVC):c.2895-105A>C rs141031111 0.00742
NM_153717.3(EVC):c.301-218C>T rs144757429 0.00727
NM_153717.3(EVC):c.175-120C>T rs41269545 0.00723
NM_153717.3(EVC):c.2895-34G>A rs78968801 0.00703
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.*1439C>T rs188270163 0.00310
NM_153717.3(EVC):c.618-22C>T rs2291156 0.00062
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_153717.3(EVC):c.*2310G>A rs539844915 0.00041
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
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.933C>T (p.Ile311=) rs759718572 0.00001
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.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2561+90G>A rs112874041
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2782+103C>T rs3733185
NM_153717.3(EVC):c.301-171C>T rs111861127
NM_153717.3(EVC):c.385-84G>T rs1871586
NM_153717.3(EVC):c.703-265C>T rs149486305

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