ClinVar Miner

List of variants studied for Curry-Hall syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
Download table as spreadsheet
HGVS dbSNP
NM_147127.5(EVC2):c.-15G>A rs76269601
NM_147127.5(EVC2):c.-19T>C rs188508515
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520
NM_147127.5(EVC2):c.3793del (p.Leu1265fs) rs587776568
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter)
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) rs1560121645
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930
NM_153717.3(EVC):c.*104G>A rs753484436
NM_153717.3(EVC):c.*1060A>C rs71599848
NM_153717.3(EVC):c.*1069A>G rs13147953
NM_153717.3(EVC):c.*1083T>G rs71599850
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1185A>G rs113728951
NM_153717.3(EVC):c.*1218C>T rs12501119
NM_153717.3(EVC):c.*1248T>G rs559890176
NM_153717.3(EVC):c.*1318G>C rs67547790
NM_153717.3(EVC):c.*1374G>C rs549720489
NM_153717.3(EVC):c.*1375A>G rs114994758
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1403C>T rs547015924
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.*14G>A rs2291151
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*1568C>T rs886059514
NM_153717.3(EVC):c.*1592C>T rs193184679
NM_153717.3(EVC):c.*1648T>C rs371788560
NM_153717.3(EVC):c.*1684A>G rs886059515
NM_153717.3(EVC):c.*1700C>T rs74690944
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.*1849C>G rs75438311
NM_153717.3(EVC):c.*1871C>T rs150764469
NM_153717.3(EVC):c.*1981A>G rs886059516
NM_153717.3(EVC):c.*198G>A rs181401771
NM_153717.3(EVC):c.*2009T>C rs79152885
NM_153717.3(EVC):c.*210C>A rs16837692
NM_153717.3(EVC):c.*2125T>G rs139771274
NM_153717.3(EVC):c.*2126T>G rs191415414
NM_153717.3(EVC):c.*2132A>G rs11939264
NM_153717.3(EVC):c.*2268G>A rs4261923
NM_153717.3(EVC):c.*2277G>C rs28452978
NM_153717.3(EVC):c.*2285C>G rs145479436
NM_153717.3(EVC):c.*2310G>A rs539844915
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2361C>T rs570533057
NM_153717.3(EVC):c.*2417T>C rs6848370
NM_153717.3(EVC):c.*2465C>T rs555611922
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*2493A>G rs188345323
NM_153717.3(EVC):c.*254G>A rs557237233
NM_153717.3(EVC):c.*2617G>A rs3733186
NM_153717.3(EVC):c.*263T>C rs575488876
NM_153717.3(EVC):c.*2680G>A rs3733187
NM_153717.3(EVC):c.*2686G>A rs545215581
NM_153717.3(EVC):c.*2708G>A rs79112570
NM_153717.3(EVC):c.*2713C>T rs3733188
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*2871C>T rs3733189
NM_153717.3(EVC):c.*2922A>C rs886059518
NM_153717.3(EVC):c.*302G>A rs560005309
NM_153717.3(EVC):c.*3161A>C rs550678702
NM_153717.3(EVC):c.*3165T>C rs3755847
NM_153717.3(EVC):c.*3170T>C rs886059519
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*492G>A rs530991301
NM_153717.3(EVC):c.*53T>C rs7676531
NM_153717.3(EVC):c.*615C>T rs73079505
NM_153717.3(EVC):c.*662G>A rs866110948
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*748T>C rs62297707
NM_153717.3(EVC):c.*820C>T rs137860758
NM_153717.3(EVC):c.*869A>G rs79612644
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*907C>T rs71599839
NM_153717.3(EVC):c.*908G>A rs13119698
NM_153717.3(EVC):c.*922G>A rs71599840
NM_153717.3(EVC):c.*931T>C rs6840435
NM_153717.3(EVC):c.-138_-137GA[1] rs886059494
NM_153717.3(EVC):c.-139G>A rs779841092
NM_153717.3(EVC):c.-35C>A rs546318095
NM_153717.3(EVC):c.-36G>A rs577263762
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
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.1313G>A (p.Arg438Gln) rs373718642
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1564-6C>T rs188245524
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497
NM_153717.3(EVC):c.1821C>G (p.His607Gln) rs779056864
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157
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.2278C>T (p.Arg760Trp) rs200479973
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.3(EVC):c.2305-5C>G rs760071065
NM_153717.3(EVC):c.2305-8T>C rs1031919
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089
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.2449+12C>G rs751678723
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.3(EVC):c.2562-3C>T rs375960614
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356
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.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624
NM_153717.3(EVC):c.802-12C>T rs61514191
NM_153717.3(EVC):c.802-15C>T rs4689313
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.3(EVC):c.939+10A>G rs2286342
NM_153717.3(EVC):c.939+11G>T rs55955937
NM_153717.3(EVC):c.939+4C>T rs2286343
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963
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.