ClinVar Miner

List of variants reported as uncertain significance for Ellis-van Creveld syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 248
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.*1112T>C rs28460555 0.20666
NM_153717.3(EVC):c.*1123A>G rs112378896 0.01481
NM_153717.3(EVC):c.*922G>A rs71599840 0.00749
NM_153717.3(EVC):c.*1136T>C rs71599852 0.00394
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_153717.3(EVC):c.-35C>A rs546318095 0.00314
NM_153717.3(EVC):c.-36G>A rs577263762 0.00288
NM_147127.5(EVC2):c.*90C>T rs115810595 0.00287
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_153717.3(EVC):c.*1248T>G rs559890176 0.00230
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_153717.3(EVC):c.*1243A>G rs111984543 0.00173
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_153717.3(EVC):c.*971C>G rs13121258 0.00145
NM_153717.3(EVC):c.*1288T>C rs1280696850 0.00134
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_153717.3(EVC):c.*263T>C rs575488876 0.00061
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_153717.3(EVC):c.*1592C>T rs193184679 0.00055
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_153717.3(EVC):c.*709T>C rs183727253 0.00049
NM_153717.3(EVC):c.*3161A>C rs550678702 0.00048
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_153717.3(EVC):c.*1069A>G rs13147953 0.00044
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_153717.3(EVC):c.*858G>A rs544337142 0.00039
NM_153717.3(EVC):c.*198G>A rs181401771 0.00038
NM_153717.3(EVC):c.*1256C>T rs532180814 0.00037
NM_153717.3(EVC):c.*1599C>T rs527297174 0.00037
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00037
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_153717.3(EVC):c.-139G>A rs779841092 0.00030
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_153717.3(EVC):c.*302G>A rs560005309 0.00021
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223 0.00019
NM_153717.3(EVC):c.*3170T>C rs886059519 0.00019
NM_153717.3(EVC):c.-163G>A rs989585218 0.00019
NM_153717.3(EVC):c.*1573T>A rs958649706 0.00017
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_153717.3(EVC):c.*2808C>T rs558094887 0.00016
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_153717.3(EVC):c.*907C>T rs71599839 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00014
NM_153717.3(EVC):c.*1871C>T rs150764469 0.00013
NM_153717.3(EVC):c.*2569C>T rs117573606 0.00013
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00013
NM_153717.3(EVC):c.*1369G>A rs1414205292 0.00012
NM_153717.3(EVC):c.*1403C>T rs547015924 0.00012
NM_153717.3(EVC):c.-20C>A rs991444136 0.00012
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys) rs371876802 0.00011
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485 0.00011
NM_153717.3(EVC):c.*1568C>T rs886059514 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_153717.3(EVC):c.*2847G>A rs935054019 0.00010
NM_153717.3(EVC):c.*355C>G rs933138943 0.00010
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621 0.00010
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00009
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg) rs200743695 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00008
NM_153717.3(EVC):c.*662G>A rs866110948 0.00007
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330 0.00006
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723 0.00006
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00006
NM_147127.5(EVC2):c.337C>T (p.Leu113Phe) rs768224457 0.00006
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_153717.3(EVC):c.*1150A>G rs1195713966 0.00006
NM_153717.3(EVC):c.*1313C>T rs548196260 0.00006
NM_153717.3(EVC):c.*1554A>C rs531598994 0.00006
NM_153717.3(EVC):c.*2321C>T rs928733602 0.00006
NM_153717.3(EVC):c.*2361C>T rs570533057 0.00006
NM_153717.3(EVC):c.*3118C>G rs906071299 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp) rs760871098 0.00005
NM_147127.5(EVC2):c.446G>A (p.Arg149His) rs202198132 0.00005
NM_153717.3(EVC):c.*1766C>T rs1012765159 0.00005
NM_153717.3(EVC):c.1019G>A (p.Arg340Gln) rs775052481 0.00005
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln) rs767013073 0.00005
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610 0.00005
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235 0.00004
NM_147127.5(EVC2):c.2706+13T>C rs200000369 0.00004
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln) rs573448772 0.00004
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu) rs370838180 0.00004
NM_153717.3(EVC):c.*254G>A rs557237233 0.00004
NM_153717.3(EVC):c.*2593C>T rs943646882 0.00004
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.455C>T (p.Pro152Leu) rs371671127 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn) rs1191013607 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559 0.00003
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782 0.00003
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg) rs748417016 0.00003
NM_147127.5(EVC2):c.3757G>A (p.Ala1253Thr) rs745540572 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_153717.3(EVC):c.*104G>A rs753484436 0.00003
NM_153717.3(EVC):c.*1071G>C rs1397822380 0.00003
NM_153717.3(EVC):c.*1981A>G rs886059516 0.00003
NM_153717.3(EVC):c.*542C>T rs1168888994 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898 0.00002
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006 0.00002
NM_153717.3(EVC):c.*2465C>T rs555611922 0.00002
NM_153717.3(EVC):c.*869A>G rs79612644 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_147127.5(EVC2):c.*68T>C rs886059470 0.00001
NM_147127.5(EVC2):c.1346G>A (p.Arg449Gln) rs774976776 0.00001
NM_147127.5(EVC2):c.1702A>G (p.Lys568Glu) rs769178878 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00001
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys) rs779884599 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901 0.00001
NM_147127.5(EVC2):c.451-15T>C rs554022197 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.737C>G (p.Ala246Gly) rs765973029 0.00001
NM_153717.3(EVC):c.*1008G>A rs1217574266 0.00001
NM_153717.3(EVC):c.*1374G>C rs549720489 0.00001
NM_153717.3(EVC):c.*1446A>G rs754781931 0.00001
NM_153717.3(EVC):c.*1684A>G rs886059515 0.00001
NM_153717.3(EVC):c.*2686G>A rs545215581 0.00001
NM_153717.3(EVC):c.*2922A>C rs886059518 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070 0.00001
NM_153717.3(EVC):c.1821C>G (p.His607Gln) rs779056864 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1942A>G (p.Arg648Gly) rs1418345759 0.00001
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu) rs375340438 0.00001
NM_153717.3(EVC):c.2305-5C>G rs760071065 0.00001
NM_153717.3(EVC):c.2522C>T (p.Ala841Val) rs1378303023 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311 0.00001
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496 0.00001
NM_153717.3(EVC):c.581G>A (p.Arg194Gln) rs777256784 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.86C>T (p.Ala29Val) rs1314509668 0.00001
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys) rs1252316234 0.00001
NM_147127.5(EVC2):c.*105C>T rs1722029883
NM_147127.5(EVC2):c.*141A>G rs565382969
NM_147127.5(EVC2):c.-29C>A rs754218861
NM_147127.5(EVC2):c.1079T>A (p.Leu360His) rs774401542
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1666C>T (p.Pro556Ser) rs886059491
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val) rs143662104
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.2983C>G (p.Leu995Val) rs548381022
NM_147127.5(EVC2):c.299G>A (p.Gly100Glu) rs886059493
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3119A>C (p.Gln1040Pro) rs1722937250
NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr) rs182888222
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu) rs150215092
NM_147127.5(EVC2):c.3305T>C (p.Leu1102Pro) rs1722816787
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val) rs1722037682
NM_147127.5(EVC2):c.427G>A (p.Glu143Lys) rs1721325369
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.857A>G (p.Glu286Gly) rs1720323516
NM_147127.5(EVC2):c.889C>G (p.Leu297Val) rs886059492
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_153717.3(EVC):c.*1019A>C rs13147919
NM_153717.3(EVC):c.*1073C>T rs1271610715
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1199G>A rs1315669218
NM_153717.3(EVC):c.*1257G>T rs1013315409
NM_153717.3(EVC):c.*1277A>C rs1259649075
NM_153717.3(EVC):c.*1338C>T rs1717063885
NM_153717.3(EVC):c.*1394T>C rs1375474161
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*1545T>G rs1328816482
NM_153717.3(EVC):c.*2303T>A rs915952245
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2468C>G rs1717227616
NM_153717.3(EVC):c.*2490C>G rs145238482
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*2692G>A rs149155153
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*3046G>C rs934986465
NM_153717.3(EVC):c.*3121C>G rs1717320370
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*3T>G rs368249789
NM_153717.3(EVC):c.*582C>A rs1716916256
NM_153717.3(EVC):c.*619C>G rs1716921490
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*798T>G rs13101313
NM_153717.3(EVC):c.*844C>G rs1180694671
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*956C>G rs761012202
NM_153717.3(EVC):c.*967T>G rs182343325
NM_153717.3(EVC):c.*995T>A rs71599846
NM_153717.3(EVC):c.-138GA[1] rs886059494
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1465-5C>T rs1731155996
NM_153717.3(EVC):c.147C>T (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1589C>T (p.Thr530Ile) rs1735956373
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu) rs1736003818
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu) rs971647538
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2441C>T (p.Thr814Ile) rs1715104252
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.83T>C (p.Leu28Pro) rs1256100832

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.