ClinVar Miner

List of variants in gene EVC reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP
GRCh37/hg19 4p16.2(chr4:5731073-5762301)x3
GRCh38/hg38 4p16.2(chr4:5720860-5741769)x3
NM_153717.2(EVC):c.2688+4_2688+5ins19 rs1553895769
NM_153717.3(EVC):c.*104G>A rs753484436
NM_153717.3(EVC):c.*1069A>G rs13147953
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1403C>T rs547015924
NM_153717.3(EVC):c.*1568C>T rs886059514
NM_153717.3(EVC):c.*1684A>G rs886059515
NM_153717.3(EVC):c.*1981A>G rs886059516
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*263T>C rs575488876
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*2922A>C rs886059518
NM_153717.3(EVC):c.*3161A>C rs550678702
NM_153717.3(EVC):c.*3170T>C rs886059519
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*662G>A rs866110948
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*869A>G rs79612644
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*907C>T rs71599839
NM_153717.3(EVC):c.-138_-137GA[1] rs886059494
NM_153717.3(EVC):c.-139G>A rs779841092
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1082A>G (p.Gln361Arg) rs886043999
NM_153717.3(EVC):c.1084_1086del (p.Glu362del) rs1553873980
NM_153717.3(EVC):c.1093G>A (p.Ala365Thr)
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) rs145645536
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.114_119CGGCCT[4] (p.39_40GL[4]) rs1164121689
NM_153717.3(EVC):c.1203C>T (p.Ser401=)
NM_153717.3(EVC):c.1226G>T (p.Gly409Val)
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537
NM_153717.3(EVC):c.1252_1254del (p.Lys418del) rs1553875708
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1269_1271GCA[2] (p.Gln425del) rs1553875724
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4]) rs1553857987
NM_153717.3(EVC):c.1286_1288del (p.Phe429del) rs1553875733
NM_153717.3(EVC):c.1315+7C>T rs1252318929
NM_153717.3(EVC):c.1315+8G>A rs550411377
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.3(EVC):c.1349C>T (p.Ala450Val) rs749008952
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter) rs1460597472
NM_153717.3(EVC):c.1493G>T (p.Arg498Met)
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077
NM_153717.3(EVC):c.1603G>A (p.Val535Met)
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737
NM_153717.3(EVC):c.1786_1788GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg)
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del) rs1553891170
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del) rs1553891205
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.2114_2116AGG[1] (p.Glu706del) rs1553891884
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358
NM_153717.3(EVC):c.2305-5C>G rs760071065
NM_153717.3(EVC):c.2305-6C>T rs781705295
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup) rs1553893407
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+4C>T rs753679138
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.2504C>A (p.Ser835Ter) rs1560439043
NM_153717.3(EVC):c.252del (p.Arg85fs) rs1560274387
NM_153717.3(EVC):c.2561+12_2561+23del rs1199616057
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899
NM_153717.3(EVC):c.2827_2828AG[1] (p.Asp945fs) rs1460851298
NM_153717.3(EVC):c.2842dup (p.Val948fs) rs1553896459
NM_153717.3(EVC):c.2893dup (p.Ser965fs) rs1553896497
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.2897_2918dup (p.Ser974fs) rs1560450412
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs) rs1553896708
NM_153717.3(EVC):c.2920del (p.Ser974fs) rs1370417156
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del) rs1553865272
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200
NM_153717.3(EVC):c.40_42CTG[2] (p.Leu16del) rs1553857864
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284
NM_153717.3(EVC):c.698A>G (p.His233Arg)
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup) rs1553857901
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.740_742TTC[1] (p.Leu248del) rs1278946084
NM_153717.3(EVC):c.751_753AAG[1] (p.Lys252del) rs1232712590
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del) rs1553857904
NM_153717.3(EVC):c.802-12C>T rs61514191
NM_153717.3(EVC):c.802-15_802-9delinsT
NM_153717.3(EVC):c.802-17TTC[3] rs370315662
NM_153717.3(EVC):c.809A>C (p.Glu270Ala)
NM_153717.3(EVC):c.835_837del (p.Lys279del) rs761463883
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter) rs1560323242
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup) rs1229967881

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