ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP
NM_153717.2(EVC):c.*1185A>G rs113728951
NM_153717.2(EVC):c.*1248T>G rs559890176
NM_153717.2(EVC):c.*1374G>C rs549720489
NM_153717.2(EVC):c.*1428C>G rs574764934
NM_153717.2(EVC):c.*1439C>T rs188270163
NM_153717.2(EVC):c.*1512T>C rs576620294
NM_153717.2(EVC):c.*1515A>T rs545639856
NM_153717.2(EVC):c.*1592C>T rs193184679
NM_153717.2(EVC):c.*1648T>C rs371788560
NM_153717.2(EVC):c.*1700C>T rs74690944
NM_153717.2(EVC):c.*1871C>T rs150764469
NM_153717.2(EVC):c.*198G>A rs181401771
NM_153717.2(EVC):c.*2125T>G rs139771274
NM_153717.2(EVC):c.*2126T>G rs191415414
NM_153717.2(EVC):c.*2132A>G rs11939264
NM_153717.2(EVC):c.*2277G>C rs28452978
NM_153717.2(EVC):c.*2285C>G rs145479436
NM_153717.2(EVC):c.*2310G>A rs539844915
NM_153717.2(EVC):c.*2361C>T rs570533057
NM_153717.2(EVC):c.*2465C>T rs555611922
NM_153717.2(EVC):c.*2493A>G rs188345323
NM_153717.2(EVC):c.*254G>A rs557237233
NM_153717.2(EVC):c.*2686G>A rs545215581
NM_153717.2(EVC):c.*2708G>A rs79112570
NM_153717.2(EVC):c.*302G>A rs560005309
NM_153717.2(EVC):c.*492G>A rs530991301
NM_153717.2(EVC):c.*615C>T rs73079505
NM_153717.2(EVC):c.*922G>A rs71599840
NM_153717.2(EVC):c.-35C>A rs546318095
NM_153717.2(EVC):c.-36G>A rs577263762
NM_153717.2(EVC):c.1075G>A (p.Asp359Asn) rs150923920
NM_153717.2(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.2(EVC):c.1313G>A (p.Arg438Gln) rs373718642
NM_153717.2(EVC):c.1333A>C (p.Lys445Gln) rs116952023
NM_153717.2(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.2(EVC):c.1428G>C (p.Glu476Asp) rs571637567
NM_153717.2(EVC):c.1462G>A (p.Glu488Lys) rs146232611
NM_153717.2(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.2(EVC):c.1564-6C>T rs188245524
NM_153717.2(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.2(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.2(EVC):c.1722C>T (p.Arg574=) rs144637923
NM_153717.2(EVC):c.1797G>A (p.Ala599=) rs199875230
NM_153717.2(EVC):c.1818A>C (p.Thr606=) rs202093497
NM_153717.2(EVC):c.1821C>G (p.His607Gln) rs779056864
NM_153717.2(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.2(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.2(EVC):c.1956C>T (p.Arg652=) rs535012160
NM_153717.2(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.2(EVC):c.2241G>A (p.Ala747=) rs142094016
NM_153717.2(EVC):c.2276G>A (p.Ser759Asn) rs201776972
NM_153717.2(EVC):c.2278C>T (p.Arg760Trp) rs200479973
NM_153717.2(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.2(EVC):c.2341G>A (p.Val781Met) rs370514515
NM_153717.2(EVC):c.2350G>A (p.Ala784Thr) rs149537641
NM_153717.2(EVC):c.2363G>A (p.Arg788His) rs73795088
NM_153717.2(EVC):c.2373G>A (p.Gln791=) rs73795089
NM_153717.2(EVC):c.2449+12C>G rs751678723
NM_153717.2(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.2(EVC):c.2562-3C>T rs375960614
NM_153717.2(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.2(EVC):c.2869G>A (p.Gly957Arg) rs35926225
NM_153717.2(EVC):c.2872G>A (p.Asp958Asn) rs35287723
NM_153717.2(EVC):c.2895-10_2895-9delCT rs371125826
NM_153717.2(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.2(EVC):c.442T>C (p.Leu148=) rs139931919
NM_153717.2(EVC):c.469C>G (p.Pro157Ala) rs146729456
NM_153717.2(EVC):c.473C>G (p.Ser158Cys) rs150284356
NM_153717.2(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.2(EVC):c.549C>T (p.Ser183=) rs201071908
NM_153717.2(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.2(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.2(EVC):c.677C>T (p.Thr226Met) rs201583621
NM_153717.2(EVC):c.899A>C (p.Glu300Ala) rs149529742
NM_153717.2(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.2(EVC):c.982C>T (p.Leu328Phe) rs199916502

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