ClinVar Miner

List of variants in gene EVC reported as likely benign for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP
NM_153717.3(EVC):c.*1185A>G rs113728951
NM_153717.3(EVC):c.*1248T>G rs559890176
NM_153717.3(EVC):c.*1374G>C rs549720489
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*1592C>T rs193184679
NM_153717.3(EVC):c.*1648T>C rs371788560
NM_153717.3(EVC):c.*1700C>T rs74690944
NM_153717.3(EVC):c.*1871C>T rs150764469
NM_153717.3(EVC):c.*198G>A rs181401771
NM_153717.3(EVC):c.*2125T>G rs139771274
NM_153717.3(EVC):c.*2126T>G rs191415414
NM_153717.3(EVC):c.*2132A>G rs11939264
NM_153717.3(EVC):c.*2277G>C rs28452978
NM_153717.3(EVC):c.*2285C>G rs145479436
NM_153717.3(EVC):c.*2310G>A rs539844915
NM_153717.3(EVC):c.*2361C>T rs570533057
NM_153717.3(EVC):c.*2465C>T rs555611922
NM_153717.3(EVC):c.*2493A>G rs188345323
NM_153717.3(EVC):c.*254G>A rs557237233
NM_153717.3(EVC):c.*2686G>A rs545215581
NM_153717.3(EVC):c.*2708G>A rs79112570
NM_153717.3(EVC):c.*302G>A rs560005309
NM_153717.3(EVC):c.*492G>A rs530991301
NM_153717.3(EVC):c.*615C>T rs73079505
NM_153717.3(EVC):c.*922G>A rs71599840
NM_153717.3(EVC):c.-35C>A rs546318095
NM_153717.3(EVC):c.-36G>A rs577263762
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281
NM_153717.3(EVC):c.114C>T (p.Leu38=) rs1167442380
NM_153717.3(EVC):c.1206C>T (p.His402=) rs756589627
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642
NM_153717.3(EVC):c.1315+8G>A rs550411377
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023
NM_153717.3(EVC):c.1350G>A (p.Ala450=) rs752575646
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611
NM_153717.3(EVC):c.1464+5C>T rs369734950
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.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773
NM_153717.3(EVC):c.1564-6C>T rs188245524
NM_153717.3(EVC):c.1564-7G>A rs201739032
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443
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.174+7C>T rs1577297959
NM_153717.3(EVC):c.175-10C>T rs113406354
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1777-8G>A rs760016211
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230
NM_153717.3(EVC):c.180C>T (p.Asp60=) rs755788871
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.1851C>G (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358
NM_153717.3(EVC):c.2098-10T>C rs774109576
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016
NM_153717.3(EVC):c.225C>T (p.Thr75=) rs200161588
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.3(EVC):c.2305-6C>T rs781705295
NM_153717.3(EVC):c.2322G>A (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.2363G>A (p.Arg788His) rs73795088
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089
NM_153717.3(EVC):c.2376G>A (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>T rs758387379
NM_153717.3(EVC):c.2449+12C>G rs751678723
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651
NM_153717.3(EVC):c.2562-3C>T rs375960614
NM_153717.3(EVC):c.2562-4C>A rs60082311
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332
NM_153717.3(EVC):c.2757G>T (p.Leu919=) rs1219650896
NM_153717.3(EVC):c.2782+9C>T rs768005359
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-4T>C rs775049818
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.312G>A (p.Pro104=) rs763930196
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919
NM_153717.3(EVC):c.462G>A (p.Glu154=) rs1019139111
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
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.677C>T (p.Thr226Met) rs201583621
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095
NM_153717.3(EVC):c.867T>G (p.Gly289=) rs758866277
NM_153717.3(EVC):c.882C>T (p.Ile294=) rs375414448
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502

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