ClinVar Miner

List of variants reported as likely benign for Ellis-van Creveld syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_147127.5(EVC2):c.*207A>G
NM_147127.5(EVC2):c.-15G>A rs76269601
NM_147127.5(EVC2):c.-19T>C rs188508515
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501
NM_147127.5(EVC2):c.1471-7T>C rs150842594
NM_147127.5(EVC2):c.2047-9A>T rs73198154
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453
NM_147127.5(EVC2):c.3659+8T>C rs200119306
NM_147127.5(EVC2):c.707-4G>A rs113806963
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930
NM_153717.3(EVC):c.*1314G>A
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.*1976C>T
NM_153717.3(EVC):c.*2125T>G rs139771274
NM_153717.3(EVC):c.*2126T>G rs191415414
NM_153717.3(EVC):c.*2310G>A rs539844915
NM_153717.3(EVC):c.*2493A>G rs188345323
NM_153717.3(EVC):c.*2692G>T
NM_153717.3(EVC):c.*491C>T
NM_153717.3(EVC):c.*492G>A rs530991301
NM_153717.3(EVC):c.*994C>T
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1464+20T>C rs886038740
NM_153717.3(EVC):c.1564-6C>T rs188245524
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.