ClinVar Miner

List of variants in gene EVC reported as uncertain significance for Ellis-van Creveld syndrome

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 230
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HGVS dbSNP
NM_153717.3(EVC):c.*1008G>A
NM_153717.3(EVC):c.*1019A>C
NM_153717.3(EVC):c.*104G>A rs753484436
NM_153717.3(EVC):c.*1069A>G rs13147953
NM_153717.3(EVC):c.*1071G>C
NM_153717.3(EVC):c.*1073C>T
NM_153717.3(EVC):c.*1112T>C
NM_153717.3(EVC):c.*1123A>G
NM_153717.3(EVC):c.*1136T>C
NM_153717.3(EVC):c.*1150A>G
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1199G>A
NM_153717.3(EVC):c.*1243A>G
NM_153717.3(EVC):c.*1248T>G rs559890176
NM_153717.3(EVC):c.*1256C>T
NM_153717.3(EVC):c.*1257G>T
NM_153717.3(EVC):c.*1277A>C
NM_153717.3(EVC):c.*1288T>C
NM_153717.3(EVC):c.*1313C>T
NM_153717.3(EVC):c.*1338C>T
NM_153717.3(EVC):c.*1369G>A
NM_153717.3(EVC):c.*1374G>C rs549720489
NM_153717.3(EVC):c.*1394T>C
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1403C>T rs547015924
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1446A>G
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*1545T>G
NM_153717.3(EVC):c.*1554A>C
NM_153717.3(EVC):c.*1568C>T rs886059514
NM_153717.3(EVC):c.*1573T>A
NM_153717.3(EVC):c.*1592C>T rs193184679
NM_153717.3(EVC):c.*1599C>T
NM_153717.3(EVC):c.*1684A>G rs886059515
NM_153717.3(EVC):c.*1766C>T
NM_153717.3(EVC):c.*1871C>T rs150764469
NM_153717.3(EVC):c.*1981A>G rs886059516
NM_153717.3(EVC):c.*198G>A rs181401771
NM_153717.3(EVC):c.*2303T>A
NM_153717.3(EVC):c.*2321C>T
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2361C>T rs570533057
NM_153717.3(EVC):c.*2465C>T rs555611922
NM_153717.3(EVC):c.*2468C>G
NM_153717.3(EVC):c.*2490C>G
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*254G>A rs557237233
NM_153717.3(EVC):c.*2569C>T
NM_153717.3(EVC):c.*2593C>T
NM_153717.3(EVC):c.*263T>C rs575488876
NM_153717.3(EVC):c.*2686G>A rs545215581
NM_153717.3(EVC):c.*2692G>A
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*2808C>T
NM_153717.3(EVC):c.*2847G>A
NM_153717.3(EVC):c.*2922A>C rs886059518
NM_153717.3(EVC):c.*302G>A rs560005309
NM_153717.3(EVC):c.*3046G>C
NM_153717.3(EVC):c.*3118C>G
NM_153717.3(EVC):c.*3121C>G
NM_153717.3(EVC):c.*3161A>C rs550678702
NM_153717.3(EVC):c.*3170T>C rs886059519
NM_153717.3(EVC):c.*355C>G
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*3T>G
NM_153717.3(EVC):c.*542C>T
NM_153717.3(EVC):c.*582C>A
NM_153717.3(EVC):c.*619C>G
NM_153717.3(EVC):c.*662G>A rs866110948
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*709T>C
NM_153717.3(EVC):c.*798T>G
NM_153717.3(EVC):c.*844C>G
NM_153717.3(EVC):c.*858G>A
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.*922G>A rs71599840
NM_153717.3(EVC):c.*956C>G
NM_153717.3(EVC):c.*967T>G
NM_153717.3(EVC):c.*971C>G
NM_153717.3(EVC):c.*995T>A
NM_153717.3(EVC):c.-138_-137GA[1] rs886059494
NM_153717.3(EVC):c.-139G>A rs779841092
NM_153717.3(EVC):c.-163G>A
NM_153717.3(EVC):c.-20C>A
NM_153717.3(EVC):c.-35C>A rs546318095
NM_153717.3(EVC):c.-36G>A rs577263762
NM_153717.3(EVC):c.1019G>A (p.Arg340Gln)
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1074C>T (p.Cys358=)
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920
NM_153717.3(EVC):c.1084_1086del (p.Glu362del) rs1553873980
NM_153717.3(EVC):c.1109A>T (p.Glu370Val)
NM_153717.3(EVC):c.1135G>T (p.Ala379Ser)
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.1242C>T (p.Ser414=) rs769206763
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.1269G>A (p.Thr423=) rs551881521
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.1321G>A (p.Val441Ile) rs202150959
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070
NM_153717.3(EVC):c.1465-5C>T
NM_153717.3(EVC):c.147C>T (p.Arg49=)
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088
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.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1564-3C>T
NM_153717.3(EVC):c.1589C>T (p.Thr530Ile)
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826
NM_153717.3(EVC):c.175-10C>T rs113406354
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483
NM_153717.3(EVC):c.1786_1788GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497
NM_153717.3(EVC):c.1821C>G (p.His607Gln) rs779056864
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1850G>T (p.Arg617Leu)
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln)
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.1922_1927del (p.Leu641_Leu642del) rs1553891170
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del) rs1553891205
NM_153717.3(EVC):c.1942A>G (p.Arg648Gly)
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu)
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358
NM_153717.3(EVC):c.2098-10T>C rs774109576
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.2126G>A (p.Arg709Gln)
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu)
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984
NM_153717.3(EVC):c.2305-5C>G rs760071065
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930
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.2395A>G (p.Arg799Gly)
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.2441C>T (p.Thr814Ile)
NM_153717.3(EVC):c.2449+12C>G rs751678723
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.2522C>T (p.Ala841Val)
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651
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.2562-3C>T rs375960614
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160
NM_153717.3(EVC):c.2653G>A (p.Asp885Asn)
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly)
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC rs1553895769
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332
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.2782+15C>G
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233
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.2869G>A (p.Gly957Arg) rs35926225
NM_153717.3(EVC):c.2893dup (p.Ser965fs) rs1553896497
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs) rs1553896708
NM_153717.3(EVC):c.2920del (p.Ser974fs) rs1370417156
NM_153717.3(EVC):c.2925A>C (p.Glu975Asp)
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
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.312G>A (p.Pro104=) rs763930196
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424
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.442T>C (p.Leu148=) rs139931919
NM_153717.3(EVC):c.455C>T (p.Pro152Leu)
NM_153717.3(EVC):c.46C>T (p.Leu16=)
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470
NM_153717.3(EVC):c.580C>T (p.Arg194Trp)
NM_153717.3(EVC):c.581G>A (p.Arg194Gln)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
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.677C>T (p.Thr226Met) rs201583621
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182
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.835_837del (p.Lys279del) rs761463883
NM_153717.3(EVC):c.83T>C (p.Leu28Pro)
NM_153717.3(EVC):c.86C>T (p.Ala29Val)
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys)
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742
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.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.940-150T>C rs576076928
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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