ClinVar Miner

List of variants in gene EVC studied for not specified

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Gene type:
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Total variants: 115
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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.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.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.1026G>C (p.Leu342=) rs4688962 0.52761
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.1068A>G (p.Leu356=) rs33929747 0.26691
NM_153717.3(EVC):c.2305-44C>T rs2306400 0.26578
NM_153717.3(EVC):c.1465-47A>C rs4642178 0.20086
NM_153717.3(EVC):c.174+31G>C rs2276874 0.15083
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.10006
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.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03038
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02598
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
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.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.469C>G (p.Pro157Ala) rs146729456 0.00451
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.939+9C>T rs201282320 0.00211
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00196
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 0.00176
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 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.473C>G (p.Ser158Cys) rs150284356 0.00097
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln) rs146739019 0.00032
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.1495C>G (p.Leu499Val) rs139157869 0.00017
NM_153717.3(EVC):c.702+16C>T rs180960931 0.00017
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.1818A>C (p.Thr606=) rs202093497 0.00013
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00012
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2349C>T (p.Ser783=) rs138114051 0.00008
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_153717.3(EVC):c.1350G>A (p.Ala450=) rs752575646 0.00006
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_153717.3(EVC):c.2305-6C>T rs781705295 0.00004
NM_153717.3(EVC):c.2529C>T (p.Gly843=) rs377066936 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.1098+12G>C rs774029262 0.00001
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537 0.00001
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625 0.00001
NM_153717.3(EVC):c.1955G>A (p.Arg652His) rs765024763 0.00001
NM_153717.3(EVC):c.2009T>A (p.Leu670His) rs1404936868 0.00001
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser) rs1395596111 0.00001
NM_153717.3(EVC):c.2653G>A (p.Asp885Asn) rs1241844907 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.2783-8C>T rs905232607 0.00001
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311 0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_153717.3(EVC):c.1018C>A (p.Arg340=) rs121908425
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.124C>A (p.Leu42Ile)
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1360C>T (p.His454Tyr)
NM_153717.3(EVC):c.1464+20T>C rs886038740
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.174+14G>A rs1246264046
NM_153717.3(EVC):c.1850G>A (p.Arg617His)
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1935C>T (p.Ala645=) rs1412137397
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.2032C>T (p.Arg678Cys)
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp) rs778287269
NM_153717.3(EVC):c.2395A>G (p.Arg799Gly) rs1715095634
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2562-13_2562-12delinsCC rs2152387572
NM_153717.3(EVC):c.2562-3del rs780164400
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.278C>G (p.Ser93Trp)
NM_153717.3(EVC):c.343C>G (p.Leu115Val)
NM_153717.3(EVC):c.439G>C (p.Val147Leu)
NM_153717.3(EVC):c.454C>G (p.Pro152Ala)
NM_153717.3(EVC):c.531C>T (p.Ser177=) rs542910336
NM_153717.3(EVC):c.569G>A (p.Arg190His)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.801+13C>T rs545838582
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153717.3(EVC):c.930A>G (p.Leu310=) rs776792609
NM_153717.3(EVC):c.939+5G>A
NM_153717.3(EVC):c.945A>G (p.Glu315=) rs1057523442

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