ClinVar Miner

List of variants reported as uncertain significance for Ellis-van Creveld syndrome; Curry-Hall syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 521
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg) rs145909403 0.00046
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.2519C>T (p.Thr840Met) rs143464806 0.00024
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala) rs149527560 0.00022
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223 0.00019
NM_147127.5(EVC2):c.1003C>T (p.Arg335Trp) rs148884226 0.00017
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 0.00013
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 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_147127.5(EVC2):c.809C>T (p.Ser270Leu) rs369153874 0.00011
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_153717.3(EVC):c.299A>G (p.Asp100Gly) rs1282571678 0.00011
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920 0.00010
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) rs145645536 0.00010
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621 0.00010
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00009
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg) rs142738089 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.1456C>T (p.Arg486Cys) rs780919705 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg) rs200743695 0.00008
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00008
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00006
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.2267A>C (p.Asn756Thr) rs146837459 0.00006
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994 0.00006
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp) rs760871098 0.00005
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475 0.00005
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln) rs767013073 0.00005
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln) rs573448772 0.00004
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu) rs145071652 0.00004
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu) rs370838180 0.00004
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser) rs368314615 0.00004
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920 0.00004
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp) rs748220728 0.00004
NM_153717.3(EVC):c.455C>T (p.Pro152Leu) rs371671127 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.2551A>G (p.Met851Val) rs373004013 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.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala) rs142952894 0.00003
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys) rs771560788 0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994 0.00003
NM_153717.3(EVC):c.461A>G (p.Glu154Gly) rs1386247667 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.1092G>A (p.Met364Ile) rs769447796 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln) rs770644264 0.00002
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser) rs200622704 0.00002
NM_147127.5(EVC2):c.2180G>A (p.Arg727His) rs140363692 0.00002
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu) rs556658594 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_147127.5(EVC2):c.3827G>T (p.Arg1276Ile) rs751725959 0.00002
NM_147127.5(EVC2):c.663G>T (p.Arg221Ser) rs753207027 0.00002
NM_147127.5(EVC2):c.869C>T (p.Thr290Met) rs149414427 0.00002
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys) rs756430334 0.00002
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801 0.00002
NM_153717.3(EVC):c.187C>G (p.Gln63Glu) rs371329240 0.00002
NM_153717.3(EVC):c.188A>G (p.Gln63Arg) rs772017175 0.00002
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys) rs745451709 0.00002
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys) rs772327981 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_153717.3(EVC):c.626T>C (p.Val209Ala) rs1230866971 0.00002
NM_147127.5(EVC2):c.1006-12A>G rs1205381388 0.00001
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00001
NM_147127.5(EVC2):c.11C>T (p.Ser4Leu) rs1468421367 0.00001
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr) rs1459733035 0.00001
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val) rs774347118 0.00001
NM_147127.5(EVC2):c.1502C>T (p.Thr501Ile) rs1209098952 0.00001
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly) rs766349604 0.00001
NM_147127.5(EVC2):c.1711-6T>A rs780082286 0.00001
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn) rs757316188 0.00001
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys) rs1222356750 0.00001
NM_147127.5(EVC2):c.1852G>A (p.Ala618Thr) rs765933739 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.2023A>G (p.Arg675Gly) rs754390055 0.00001
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr) rs1318313186 0.00001
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp) rs532778814 0.00001
NM_147127.5(EVC2):c.2404G>C (p.Gly802Arg) rs577020845 0.00001
NM_147127.5(EVC2):c.2424G>C (p.Gln808His) rs541956407 0.00001
NM_147127.5(EVC2):c.2706+5G>T rs747272944 0.00001
NM_147127.5(EVC2):c.2707-3C>T rs755042717 0.00001
NM_147127.5(EVC2):c.283+18T>G rs894951363 0.00001
NM_147127.5(EVC2):c.2876A>T (p.Gln959Leu) rs1228531350 0.00001
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser) rs753942333 0.00001
NM_147127.5(EVC2):c.295C>T (p.Leu99Phe) rs897972159 0.00001
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys) rs779884599 0.00001
NM_147127.5(EVC2):c.3499G>A (p.Val1167Met) rs775202977 0.00001
NM_147127.5(EVC2):c.3508G>A (p.Ala1170Thr) rs748514374 0.00001
NM_147127.5(EVC2):c.3579A>C (p.Gln1193His) rs1346353134 0.00001
NM_147127.5(EVC2):c.3604G>A (p.Asp1202Asn) rs752599166 0.00001
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901 0.00001
NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro) rs746578489 0.00001
NM_147127.5(EVC2):c.551G>A (p.Arg184His) rs771841841 0.00001
NM_147127.5(EVC2):c.572A>C (p.Asn191Thr) rs754001550 0.00001
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908 0.00001
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg) rs771493745 0.00001
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537 0.00001
NM_153717.3(EVC):c.1283C>T (p.Ala428Val) rs1409088904 0.00001
NM_153717.3(EVC):c.1316-10T>A rs1730755993 0.00001
NM_153717.3(EVC):c.136C>T (p.Leu46Phe) rs1246844384 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1638G>T (p.Met546Ile) rs1225766769 0.00001
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr) rs926749491 0.00001
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) rs1373148885 0.00001
NM_153717.3(EVC):c.1955G>A (p.Arg652His) rs765024763 0.00001
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys) rs367968708 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser) rs1395596111 0.00001
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln) rs930402783 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser) rs771505230 0.00001
NM_153717.3(EVC):c.27G>C (p.Lys9Asn) rs1474600088 0.00001
NM_153717.3(EVC):c.340G>A (p.Ala114Thr) rs756208272 0.00001
NM_153717.3(EVC):c.49G>A (p.Gly17Arg) rs1722991667 0.00001
NM_153717.3(EVC):c.568C>T (p.Arg190Cys) rs1286815295 0.00001
NM_153717.3(EVC):c.853A>G (p.Met285Val) rs1464387798 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_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 0.00001
NC_000004.11:g.(?_5720955)_(5721120_?)del
NM_147127.5(EVC2):c.1006G>T (p.Val336Phe)
NM_147127.5(EVC2):c.101G>A (p.Ser34Asn) rs888701582
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
NM_147127.5(EVC2):c.1054G>C (p.Asp352His)
NM_147127.5(EVC2):c.1060G>A (p.Val354Met)
NM_147127.5(EVC2):c.1082A>G (p.Asn361Ser)
NM_147127.5(EVC2):c.1089A>G (p.Gln363=)
NM_147127.5(EVC2):c.1112A>G (p.Glu371Gly)
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys) rs2108864342
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
NM_147127.5(EVC2):c.121C>A (p.Pro41Thr)
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys) rs2108863818
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
NM_147127.5(EVC2):c.1470+6A>G
NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro)
NM_147127.5(EVC2):c.1516G>A (p.Glu506Lys)
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1556A>G (p.Glu519Gly)
NM_147127.5(EVC2):c.1562A>G (p.Asp521Gly)
NM_147127.5(EVC2):c.1574C>T (p.Ala525Val)
NM_147127.5(EVC2):c.1589C>A (p.Ala530Asp) rs1329925495
NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile)
NM_147127.5(EVC2):c.1634T>C (p.Ile545Thr)
NM_147127.5(EVC2):c.1637A>C (p.Lys546Thr)
NM_147127.5(EVC2):c.1645A>G (p.Ile549Val)
NM_147127.5(EVC2):c.1675G>A (p.Ala559Thr)
NM_147127.5(EVC2):c.1688T>C (p.Leu563Pro)
NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)
NM_147127.5(EVC2):c.1740C>G (p.Phe580Leu)
NM_147127.5(EVC2):c.176G>A (p.Gly59Asp)
NM_147127.5(EVC2):c.176G>C (p.Gly59Ala)
NM_147127.5(EVC2):c.1782C>G (p.His594Gln)
NM_147127.5(EVC2):c.1788_1793del (p.Tyr597_Leu598del)
NM_147127.5(EVC2):c.1802A>G (p.Asn601Ser) rs775815805
NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu)
NM_147127.5(EVC2):c.1825G>A (p.Val609Met)
NM_147127.5(EVC2):c.1859T>A (p.Leu620Gln) rs1560177469
NM_147127.5(EVC2):c.1886+3A>G rs2108846962
NM_147127.5(EVC2):c.1888G>A (p.Ala630Thr)
NM_147127.5(EVC2):c.1889C>G (p.Ala630Gly)
NM_147127.5(EVC2):c.1892G>T (p.Gly631Val)
NM_147127.5(EVC2):c.1926G>T (p.Leu642Phe) rs2108843340
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
NM_147127.5(EVC2):c.1977C>G (p.Asp659Glu)
NM_147127.5(EVC2):c.1994A>T (p.Lys665Ile)
NM_147127.5(EVC2):c.199A>G (p.Ser67Gly) rs1722347761
NM_147127.5(EVC2):c.2053G>A (p.Glu685Lys)
NM_147127.5(EVC2):c.2057A>G (p.Gln686Arg)
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
NM_147127.5(EVC2):c.2093G>A (p.Arg698Gln)
NM_147127.5(EVC2):c.2107G>A (p.Ala703Thr) rs1381479998
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
NM_147127.5(EVC2):c.2124C>G (p.His708Gln)
NM_147127.5(EVC2):c.2135G>A (p.Ser712Asn) rs371896802
NM_147127.5(EVC2):c.214G>C (p.Glu72Gln)
NM_147127.5(EVC2):c.2159C>A (p.Thr720Asn)
NM_147127.5(EVC2):c.2164_2172dup (p.Leu724_Gln725insGluGluLeu)
NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn) rs1715808033
NM_147127.5(EVC2):c.2210G>A (p.Arg737Lys)
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
NM_147127.5(EVC2):c.227A>G (p.Gln76Arg) rs976833828
NM_147127.5(EVC2):c.2296C>T (p.Arg766Cys)
NM_147127.5(EVC2):c.2297G>A (p.Arg766His)
NM_147127.5(EVC2):c.2297G>T (p.Arg766Leu)
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser) rs1454769055
NM_147127.5(EVC2):c.2341G>A (p.Gly781Ser) rs1272970867
NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser)
NM_147127.5(EVC2):c.2365G>A (p.Glu789Lys)
NM_147127.5(EVC2):c.2376G>C (p.Glu792Asp)
NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg)
NM_147127.5(EVC2):c.2386A>G (p.Arg796Gly)
NM_147127.5(EVC2):c.2390A>C (p.Asp797Ala) rs931667385
NM_147127.5(EVC2):c.241A>T (p.Met81Leu)
NM_147127.5(EVC2):c.243G>A (p.Met81Ile)
NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr)
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)
NM_147127.5(EVC2):c.2482T>C (p.Trp828Arg)
NM_147127.5(EVC2):c.2490C>A (p.His830Gln)
NM_147127.5(EVC2):c.2506C>T (p.Leu836Phe)
NM_147127.5(EVC2):c.2512T>C (p.Ser838Pro)
NM_147127.5(EVC2):c.2518G>A (p.Val840Ile) rs2108833529
NM_147127.5(EVC2):c.2585T>A (p.Met862Lys)
NM_147127.5(EVC2):c.2587G>A (p.Asp863Asn)
NM_147127.5(EVC2):c.2614C>T (p.Arg872Trp)
NM_147127.5(EVC2):c.2643G>C (p.Gln881His)
NM_147127.5(EVC2):c.2654G>A (p.Arg885Gln)
NM_147127.5(EVC2):c.2686G>A (p.Val896Met)
NM_147127.5(EVC2):c.2695C>T (p.Pro899Ser)
NM_147127.5(EVC2):c.2706G>C (p.Gln902His)
NM_147127.5(EVC2):c.2707-9C>A rs772234395
NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp)
NM_147127.5(EVC2):c.2732G>C (p.Arg911Pro)
NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)
NM_147127.5(EVC2):c.2815G>A (p.Asp939Asn)
NM_147127.5(EVC2):c.2834G>A (p.Arg945Gln)
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp) rs748869122
NM_147127.5(EVC2):c.2929C>T (p.Arg977Trp)
NM_147127.5(EVC2):c.2938G>A (p.Glu980Lys)
NM_147127.5(EVC2):c.2941A>T (p.Thr981Ser)
NM_147127.5(EVC2):c.2948C>T (p.Ser983Leu) rs536732931
NM_147127.5(EVC2):c.2957C>T (p.Thr986Ile)
NM_147127.5(EVC2):c.2993A>T (p.Glu998Val)
NM_147127.5(EVC2):c.3010A>G (p.Met1004Val)
NM_147127.5(EVC2):c.3012G>A (p.Met1004Ile)
NM_147127.5(EVC2):c.3023C>G (p.Ser1008Trp) rs60809236
NM_147127.5(EVC2):c.303G>A (p.Met101Ile)
NM_147127.5(EVC2):c.3047C>T (p.Ser1016Leu)
NM_147127.5(EVC2):c.3086A>G (p.Glu1029Gly)
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)
NM_147127.5(EVC2):c.3141G>T (p.Trp1047Cys)
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
NM_147127.5(EVC2):c.3215C>T (p.Thr1072Ile)
NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)
NM_147127.5(EVC2):c.3238A>C (p.Lys1080Gln)
NM_147127.5(EVC2):c.3240G>C (p.Lys1080Asn)
NM_147127.5(EVC2):c.3269A>C (p.Gln1090Pro)
NM_147127.5(EVC2):c.32C>G (p.Thr11Arg)
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
NM_147127.5(EVC2):c.3360+16C>G
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His) rs1577106433
NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
NM_147127.5(EVC2):c.3395C>T (p.Ala1132Val)
NM_147127.5(EVC2):c.3397A>C (p.Met1133Leu)
NM_147127.5(EVC2):c.3397A>G (p.Met1133Val)
NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His) rs779684008
NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
NM_147127.5(EVC2):c.3544G>A (p.Val1182Met)
NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu) rs144511301
NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr) rs752599166
NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
NM_147127.5(EVC2):c.3659+3A>C
NM_147127.5(EVC2):c.3659+3A>G
NM_147127.5(EVC2):c.3659+5T>C rs1722200321
NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg) rs1399603571
NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
NM_147127.5(EVC2):c.3778del (p.Ala1260fs)
NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val) rs894829697
NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)
NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
NM_147127.5(EVC2):c.431C>T (p.Ser144Phe)
NM_147127.5(EVC2):c.434C>A (p.Pro145His)
NM_147127.5(EVC2):c.434C>G (p.Pro145Arg)
NM_147127.5(EVC2):c.434C>T (p.Pro145Leu)
NM_147127.5(EVC2):c.436A>G (p.Ile146Val)
NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
NM_147127.5(EVC2):c.509A>T (p.Lys170Ile) rs2151733915
NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
NM_147127.5(EVC2):c.555A>G (p.Ile185Met) rs2151731889
NM_147127.5(EVC2):c.556T>C (p.Trp186Arg) rs1342830628
NM_147127.5(EVC2):c.55C>A (p.Leu19Met) rs1722364834
NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
NM_147127.5(EVC2):c.596A>G (p.Asn199Ser) rs567458437
NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
NM_147127.5(EVC2):c.638C>T (p.Thr213Ile) rs2151731712
NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
NM_147127.5(EVC2):c.656G>A (p.Gly219Glu) rs1720935592
NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
NM_147127.5(EVC2):c.706+6A>G
NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
NM_147127.5(EVC2):c.734C>A (p.Ala245Glu) rs1720636458
NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
NM_147127.5(EVC2):c.748G>A (p.Ala250Thr)
NM_147127.5(EVC2):c.749C>T (p.Ala250Val)
NM_147127.5(EVC2):c.760G>A (p.Gly254Arg)
NM_147127.5(EVC2):c.766G>A (p.Gly256Arg)
NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
NM_147127.5(EVC2):c.83G>A (p.Arg28Gln)
NM_147127.5(EVC2):c.844T>A (p.Ser282Thr)
NM_147127.5(EVC2):c.845C>G (p.Ser282Cys)
NM_147127.5(EVC2):c.845C>T (p.Ser282Phe)
NM_147127.5(EVC2):c.847A>G (p.Ile283Val)
NM_147127.5(EVC2):c.856G>A (p.Glu286Lys)
NM_147127.5(EVC2):c.864C>G (p.Asn288Lys) rs144730069
NM_147127.5(EVC2):c.865G>C (p.Val289Leu)
NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
NM_147127.5(EVC2):c.950T>C (p.Leu317Pro)
NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1050G>C (p.Met350Ile) rs1729670311
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
NM_153717.3(EVC):c.1119G>A (p.Met373Ile) rs1397539769
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
NM_153717.3(EVC):c.1141G>A (p.Val381Met) rs2152076238
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1]) rs1164121689
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
NM_153717.3(EVC):c.1379C>T (p.Ala460Val) rs1309149029
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
NM_153717.3(EVC):c.1528G>C (p.Val510Leu) rs143971158
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys) rs539010490
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly) rs141820870
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) rs1383180
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu) rs1736003818
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe) rs1713205522
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro) rs535632933
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg) rs757227773
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro) rs35401386
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser) rs1577616840
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro) rs2152340934
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly) rs545087909
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln) rs1430134537
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
NM_153717.3(EVC):c.218C>T (p.Ala73Val) rs1361442490
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser) rs149537641
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
NM_153717.3(EVC):c.2449+5G>A
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser) rs1446692986
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
NM_153717.3(EVC):c.2689-8C>G
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln) rs1489027267
NM_153717.3(EVC):c.2783-3C>A
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
NM_153717.3(EVC):c.2842del (p.Val948fs)
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser) rs2152394584
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala) rs2152394644
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser) rs780548102
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
NM_153717.3(EVC):c.2894+4T>A rs746636411
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg) rs1716842535
NM_153717.3(EVC):c.300+3A>G
NM_153717.3(EVC):c.34G>C (p.Ala12Pro) rs1369066723
NM_153717.3(EVC):c.385-3C>T rs2151934859
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
NM_153717.3(EVC):c.437C>G (p.Ala146Gly) rs2151935147
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
NM_153717.3(EVC):c.581G>C (p.Arg194Pro) rs777256784
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
NM_153717.3(EVC):c.58G>C (p.Ala20Pro) rs1359522467
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
NM_153717.3(EVC):c.65G>C (p.Arg22Pro) rs2151767266
NM_153717.3(EVC):c.696G>C (p.Lys232Asn) rs371664035
NM_153717.3(EVC):c.698A>C (p.His233Pro)
NM_153717.3(EVC):c.698A>G (p.His233Arg) rs769431829
NM_153717.3(EVC):c.700A>G (p.Met234Val)
NM_153717.3(EVC):c.719T>G (p.Phe240Cys) rs2152000493
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.734T>A (p.Leu245His)
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
NM_153717.3(EVC):c.857C>G (p.Ser286Trp) rs139263450
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
NM_153717.3(EVC):c.939T>A (p.Asn313Lys) rs764394644
NM_153717.3(EVC):c.940A>G (p.Met314Val) rs557010916

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