ClinVar Miner

List of variants studied for Curry-Hall syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72808
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71896
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60306
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.22179
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17742
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07552
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00890
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00085
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.1776+5G>A rs968001713 0.00002
NM_153717.3(EVC):c.*1684A>G rs886059515 0.00001
NM_153717.3(EVC):c.1683C>T (p.Val561=) rs913909906 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.1957G>A (p.Gly653Ser) rs762716384 0.00001
NM_153717.3(EVC):c.2305-5C>G rs760071065 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter) rs186197620
NM_147127.5(EVC2):c.3793del (p.Leu1265fs) rs587776568
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) rs1560121645
NM_147127.5(EVC2):c.449del (p.Leu150fs) rs1308566542
NM_147127.5(EVC2):c.451-1G>T
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.-138GA[1] rs886059494
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1465-1G>A rs1731156302
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro) rs372089496
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.2554C>G (p.His852Asp) rs574669392
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.801+1G>T rs1447653524

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.