ClinVar Miner

List of variants in gene DDX11 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030653.4(DDX11):c.254A>G (p.His85Arg) rs138980593 0.00578
NM_030653.4(DDX11):c.2225C>T (p.Ala742Val) rs772951240 0.00035
NM_030653.4(DDX11):c.2692-1G>A rs376819535 0.00007
NM_030653.4(DDX11):c.2600G>A (p.Arg867Gln) rs759123212 0.00004
NM_030653.4(DDX11):c.927G>C (p.Gln309His) rs765283170 0.00004
NM_030653.4(DDX11):c.2466C>G (p.Ala822=) rs142205480 0.00003
NM_030653.4(DDX11):c.767G>A (p.Arg256Gln) rs762392717 0.00002
NM_030653.4(DDX11):c.1523T>G (p.Leu508Arg) rs1057520196 0.00001
NM_030653.4(DDX11):c.223C>T (p.Arg75Ter) rs781413815 0.00001
NM_030653.4(DDX11):c.1027C>T (p.Leu343Phe)
NM_030653.4(DDX11):c.1042C>T (p.Arg348Trp)
NM_030653.4(DDX11):c.1069C>G (p.Leu357Val)
NM_030653.4(DDX11):c.1087C>A (p.Gln363Lys)
NM_030653.4(DDX11):c.1198G>A (p.Asp400Asn)
NM_030653.4(DDX11):c.1211G>T (p.Gly404Val)
NM_030653.4(DDX11):c.1276G>A (p.Val426Met)
NM_030653.4(DDX11):c.1288G>C (p.Gly430Arg)
NM_030653.4(DDX11):c.1341G>T (p.Leu447Phe)
NM_030653.4(DDX11):c.1353C>G (p.Phe451Leu)
NM_030653.4(DDX11):c.1354G>A (p.Val452Met)
NM_030653.4(DDX11):c.1360G>T (p.Val454Leu)
NM_030653.4(DDX11):c.1364T>C (p.Leu455Pro)
NM_030653.4(DDX11):c.1375A>G (p.Ile459Val)
NM_030653.4(DDX11):c.137C>G (p.Thr46Ser)
NM_030653.4(DDX11):c.1430C>A (p.Thr477Asn)
NM_030653.4(DDX11):c.1438G>A (p.Asp480Asn)
NM_030653.4(DDX11):c.1439A>G (p.Asp480Gly)
NM_030653.4(DDX11):c.1448T>A (p.Phe483Tyr)
NM_030653.4(DDX11):c.1459A>G (p.Ile487Val)
NM_030653.4(DDX11):c.1466A>G (p.Asn489Ser)
NM_030653.4(DDX11):c.1472A>G (p.Asn491Ser)
NM_030653.4(DDX11):c.1535C>G (p.Thr512Ser)
NM_030653.4(DDX11):c.1577A>G (p.Lys526Arg)
NM_030653.4(DDX11):c.1622C>T (p.Thr541Met)
NM_030653.4(DDX11):c.1633C>T (p.Leu545Phe)
NM_030653.4(DDX11):c.1646C>T (p.Ala549Val)
NM_030653.4(DDX11):c.164T>C (p.Ile55Thr)
NM_030653.4(DDX11):c.1696A>G (p.Ile566Val)
NM_030653.4(DDX11):c.1730A>G (p.Asn577Ser)
NM_030653.4(DDX11):c.1843G>T (p.Ala615Ser)
NM_030653.4(DDX11):c.1867A>G (p.Met623Val)
NM_030653.4(DDX11):c.188G>A (p.Arg63His)
NM_030653.4(DDX11):c.1928G>A (p.Arg643His)
NM_030653.4(DDX11):c.1955T>C (p.Val652Ala)
NM_030653.4(DDX11):c.1991G>A (p.Cys664Tyr)
NM_030653.4(DDX11):c.2007C>A (p.Asn669Lys)
NM_030653.4(DDX11):c.2062G>C (p.Val688Leu)
NM_030653.4(DDX11):c.2068C>T (p.Arg690Cys)
NM_030653.4(DDX11):c.2122C>T (p.Pro708Ser)
NM_030653.4(DDX11):c.2266_2271+4dup
NM_030653.4(DDX11):c.2279G>A (p.Gly760Asp)
NM_030653.4(DDX11):c.233A>G (p.Glu78Gly)
NM_030653.4(DDX11):c.2460C>G (p.Pro820=)
NM_030653.4(DDX11):c.2460C>T (p.Pro820=)
NM_030653.4(DDX11):c.2474A>G (p.Gln825Arg)
NM_030653.4(DDX11):c.2481C>G (p.Pro827=)
NM_030653.4(DDX11):c.2482C>T (p.Pro828Ser)
NM_030653.4(DDX11):c.2516A>G (p.Lys839Arg)
NM_030653.4(DDX11):c.2521G>A (p.Val841Ile)
NM_030653.4(DDX11):c.2626G>T (p.Ala876Ser)
NM_030653.4(DDX11):c.263A>G (p.Lys88Arg)
NM_030653.4(DDX11):c.2641C>T (p.Arg881Cys)
NM_030653.4(DDX11):c.2698C>T (p.Arg900Trp)
NM_030653.4(DDX11):c.295G>A (p.Glu99Lys)
NM_030653.4(DDX11):c.296A>G (p.Glu99Gly)
NM_030653.4(DDX11):c.427C>T (p.Arg143Cys)
NM_030653.4(DDX11):c.428G>A (p.Arg143His)
NM_030653.4(DDX11):c.475C>T (p.Arg159Cys)
NM_030653.4(DDX11):c.476G>A (p.Arg159His)
NM_030653.4(DDX11):c.481-2del
NM_030653.4(DDX11):c.499A>G (p.Arg167Gly)
NM_030653.4(DDX11):c.515G>A (p.Arg172His)
NM_030653.4(DDX11):c.593T>G (p.Val198Gly)
NM_030653.4(DDX11):c.59A>G (p.Tyr20Cys)
NM_030653.4(DDX11):c.632C>T (p.Ala211Val)
NM_030653.4(DDX11):c.658G>A (p.Asp220Asn)
NM_030653.4(DDX11):c.700C>G (p.Arg234Gly)
NM_030653.4(DDX11):c.700C>T (p.Arg234Trp)
NM_030653.4(DDX11):c.701G>A (p.Arg234Gln)
NM_030653.4(DDX11):c.784T>A (p.Ser262Thr)
NM_030653.4(DDX11):c.827G>A (p.Gly276Asp)
NM_030653.4(DDX11):c.856G>A (p.Val286Met)
NM_030653.4(DDX11):c.953A>G (p.Tyr318Cys)
NM_030653.4(DDX11):c.969G>A (p.Met323Ile)

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.