ClinVar Miner

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

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.*2126T>G rs191415414 0.00444
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_153717.3(EVC):c.*491C>T rs114993332 0.00287
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_153717.3(EVC):c.*2692G>T rs149155153 0.00279
NM_147127.5(EVC2):c.*207A>G rs73072282 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288 0.00194
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00120
NM_153717.3(EVC):c.*2493A>G rs188345323 0.00114
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_153717.3(EVC):c.*492G>A rs530991301 0.00090
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_153717.3(EVC):c.*1976C>T rs56333422 0.00082
NM_153717.3(EVC):c.*994C>T rs547970729 0.00071
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_153717.3(EVC):c.*2310G>A rs539844915 0.00041
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_153717.3(EVC):c.*2125T>G rs139771274 0.00033
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773 0.00016
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996 0.00006
NM_153717.3(EVC):c.2868C>T (p.Ser956=) rs757526901 0.00006
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104 0.00006
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867 0.00004
NM_153717.3(EVC):c.219G>A (p.Ala73=) rs759816860 0.00004
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.2649C>T (p.Val883=) rs1483799016 0.00003
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549 0.00001
NM_153717.3(EVC):c.1315+8G>A rs550411377 0.00001
NM_153717.3(EVC):c.1602C>T (p.Phe534=) rs766294209 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422 0.00001
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_153717.3(EVC):c.*1314G>A rs567979829
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.1464+20T>C rs886038740
NM_153717.3(EVC):c.1563+216C>A rs1194963469
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1995G>T (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2274G>A (p.Lys758=) rs199611644
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2913G>A (p.Gln971=) rs370649784
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572

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