ClinVar Miner

List of variants in gene EDA reported as pathogenic for Hypohidrotic X-linked ectodermal dysplasia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 177
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001399.5(EDA):c.1013C>T (p.Thr338Met) rs132630321 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001399.5(EDA):c.526+5G>C rs397516664 0.00001
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
EDA, 1-BP DEL, EX6
EDA, 36-BP DEL, EX5
NC_000023.10:g.(?_68836133)_(69255479_?)del
NC_000023.10:g.(?_68836153)_(68836568_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)dup
NC_000023.10:g.(?_69080668)_(69177002_?)del
NC_000023.10:g.(?_69080668)_(69177002_?)dup
NC_000023.10:g.(?_69176857)_(69255459_?)del
NC_000023.10:g.(?_69235004)_(69247795_?)del
NC_000023.10:g.(?_69243048)_(69247906_?)del
NC_000023.10:g.(?_69243048)_(69255479_?)del
NC_000023.10:g.(?_69255198)_(69255469_?)del
NC_000023.11:g.(?_69616289)_(69616724_?)del
NC_000023.11:g.(?_69616289)_(69670280_?)del
NC_000023.11:g.(?_69957007)_(69957152_?)del
NC_000023.11:g.(?_69957007)_(69957152_?)dup
NC_000023.11:g.(?_69957017)_(69957142_?)del
NC_000023.11:g.(?_70035338)_(70035629_?)del
NM_001399.4(EDA):c.(?_-115)_(174_?)del
NM_001399.4(EDA):c.(?_397)_(502_?)del
NM_001399.4(EDA):c.(?_397-304)_(460_?)del
NM_001399.4(EDA):c.(?_503)-88_(1176_?)del
NM_001399.4(EDA):c.(?_707)_(741_?)del
NM_001399.4(EDA):c.(?_925)_(1176_?)del
NM_001399.5(EDA):c.-36_47del (p.Met1fs) rs1931920527
NM_001399.5(EDA):c.1009G>T (p.Glu337Ter) rs191378148
NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)
NM_001399.5(EDA):c.1029del (p.Asn342_Tyr343insTer)
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) rs132630317
NM_001399.5(EDA):c.1067C>A (p.Ala356Asp) rs876657639
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.5(EDA):c.1091T>C (p.Met364Thr)
NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs) rs1556110934
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys) rs2020255486
NM_001399.5(EDA):c.1119G>A (p.Met373Ile)
NM_001399.5(EDA):c.1119G>T (p.Met373Ile)
NM_001399.5(EDA):c.1133C>T (p.Thr378Met) rs1569407346
NM_001399.5(EDA):c.1136T>C (p.Phe379Ser) rs2147519384
NM_001399.5(EDA):c.1144del (p.Ala382fs)
NM_001399.5(EDA):c.11del (p.Pro4fs) rs1602221405
NM_001399.5(EDA):c.132_135dup (p.Phe46fs) rs727505089
NM_001399.5(EDA):c.134G>A (p.Gly45Asp) rs1931938364
NM_001399.5(EDA):c.167T>A (p.Leu56Gln) rs1569272203
NM_001399.5(EDA):c.180C>A (p.Cys60Ter) rs1131692034
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter) rs132630318
NM_001399.5(EDA):c.187G>A (p.Glu63Lys) rs132630311
NM_001399.5(EDA):c.1A>G (p.Met1Val) rs2147196982
NM_001399.5(EDA):c.213del (p.Glu71fs) rs2147197808
NM_001399.5(EDA):c.216_220del (p.Gly73fs) rs2147197831
NM_001399.5(EDA):c.223G>T (p.Glu75Ter) rs2147197866
NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs) rs1555972067
NM_001399.5(EDA):c.239dup (p.Ser81fs) rs1555972071
NM_001399.5(EDA):c.252del (p.Gly85fs) rs1569272328
NM_001399.5(EDA):c.271dup (p.Ser91fs) rs1931956776
NM_001399.5(EDA):c.272dup (p.Ser91fs) rs397516656
NM_001399.5(EDA):c.286del (p.Leu96fs)
NM_001399.5(EDA):c.28G>T (p.Glu10Ter)
NM_001399.5(EDA):c.2T>C (p.Met1Thr) rs397516659
NM_001399.5(EDA):c.2T>G (p.Met1Arg)
NM_001399.5(EDA):c.319_322dup (p.Gln108fs) rs876657684
NM_001399.5(EDA):c.326dup (p.Ser110fs) rs2147198269
NM_001399.5(EDA):c.329C>A (p.Ser110Ter) rs397516660
NM_001399.5(EDA):c.347T>A (p.Leu116Ter) rs397516661
NM_001399.5(EDA):c.396+1G>A rs727504537
NM_001399.5(EDA):c.396+2T>G rs727504814
NM_001399.5(EDA):c.396+4dup rs1569272528
NM_001399.5(EDA):c.397-1G>C
NM_001399.5(EDA):c.413_416del (p.Phe138fs) rs2019017595
NM_001399.5(EDA):c.441dup (p.Glu148Ter) rs2147419086
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.459dup (p.Val154fs) rs1569384962
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.467G>T (p.Arg156Leu) rs132630314
NM_001399.5(EDA):c.474A>C (p.Lys158Asn) rs727504649
NM_001399.5(EDA):c.479G>A (p.Ser160Asn) rs1556039088
NM_001399.5(EDA):c.486_487insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAAAGC (p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
NM_001399.5(EDA):c.492del (p.Gly165fs) rs2019019815
NM_001399.5(EDA):c.494G>C (p.Gly165Ala) rs1057521131
NM_001399.5(EDA):c.497del (p.Ala166fs) rs2147419276
NM_001399.5(EDA):c.502+1G>A rs727505013
NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs) rs1556092261
NM_001399.5(EDA):c.526+1G>A rs2147503858
NM_001399.5(EDA):c.527-2A>T rs1569404780
NM_001399.5(EDA):c.543_569del (p.Asn185_Pro193del)
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) rs397516665
NM_001399.5(EDA):c.552_578del (p.Asn185_Pro193del) rs2147509524
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del) rs397516666
NM_001399.5(EDA):c.560dup (p.Pro188fs) rs1556098384
NM_001399.5(EDA):c.562_589del (p.Pro188fs) rs397516667
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001399.5(EDA):c.572del (p.Pro191fs)
NM_001399.5(EDA):c.573_574insT (p.Gly192fs) rs1569404873
NM_001399.5(EDA):c.576_592del (p.Pro193fs) rs2147509622
NM_001399.5(EDA):c.585_697del (p.Pro196fs) rs2147509660
NM_001399.5(EDA):c.589del (p.Gln197fs) rs2020137674
NM_001399.5(EDA):c.58C>T (p.Arg20Ter)
NM_001399.5(EDA):c.595_613del (p.Pro199fs) rs2147509712
NM_001399.5(EDA):c.599del (p.Pro200fs) rs1556098570
NM_001399.5(EDA):c.599dup (p.Gly201fs) rs1556098570
NM_001399.5(EDA):c.602G>A (p.Gly201Glu) rs2147509771
NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del) rs1602618255
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_001399.5(EDA):c.614_699del (p.Ile205fs) rs2147509775
NM_001399.5(EDA):c.619G>A (p.Gly207Arg) rs2147509825
NM_001399.5(EDA):c.620G>A (p.Gly207Glu) rs2020139491
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.628G>A (p.Gly210Arg) rs1556098733
NM_001399.5(EDA):c.628G>T (p.Gly210Ter) rs1556098733
NM_001399.5(EDA):c.632C>G (p.Thr211Arg) rs2147509853
NM_001399.5(EDA):c.643G>T (p.Gly215Ter) rs2147509886
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) rs876657685
NM_001399.5(EDA):c.64_71dup (p.Cys25fs)
NM_001399.5(EDA):c.659C>T (p.Pro220Leu) rs2147509932
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001399.5(EDA):c.660_668del (p.217PGP[2])
NM_001399.5(EDA):c.662G>A (p.Gly221Asp)
NM_001399.5(EDA):c.663_697del (p.Pro222fs) rs397516670
NM_001399.5(EDA):c.670G>C (p.Gly224Arg) rs1602618398
NM_001399.5(EDA):c.671G>C (p.Gly224Ala) rs132630316
NM_001399.5(EDA):c.673_706+2del rs2020140911
NM_001399.5(EDA):c.676C>T (p.Gln226Ter) rs727503007
NM_001399.5(EDA):c.67C>T (p.Gln23Ter) rs132630310
NM_001399.5(EDA):c.681_697del (p.Pro228fs) rs1556098978
NM_001399.5(EDA):c.686dup (p.Gly230fs) rs1602618442
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001399.5(EDA):c.706+1G>C rs886039344
NM_001399.5(EDA):c.706+5G>T rs780966428
NM_001399.5(EDA):c.707-13T>G rs2147511678
NM_001399.5(EDA):c.707-2A>T rs2147511696
NM_001399.5(EDA):c.720del (p.Ala241fs)
NM_001399.5(EDA):c.730C>T (p.Arg244Ter) rs397516672
NM_001399.5(EDA):c.741G>A (p.Gln247=) rs886042183
NM_001399.5(EDA):c.755A>T (p.His252Leu) rs879255552
NM_001399.5(EDA):c.760C>T (p.Gln254Ter)
NM_001399.5(EDA):c.766C>T (p.Gln256Ter) rs727504417
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.801A>G (p.Ser267=) rs2147516275
NM_001399.5(EDA):c.809del (p.Val270fs) rs727503008
NM_001399.5(EDA):c.822G>A (p.Trp274Ter) rs397516675
NM_001399.5(EDA):c.822del (p.Trp274fs) rs397516676
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) rs387907197
NM_001399.5(EDA):c.827G>T (p.Arg276Leu) rs1057517731
NM_001399.5(EDA):c.837G>A (p.Met279Ile)
NM_001399.5(EDA):c.865C>T (p.Arg289Cys) rs879255551
NM_001399.5(EDA):c.865del (p.Arg289fs)
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) rs397516677
NM_001399.5(EDA):c.871G>C (p.Gly291Arg)
NM_001399.5(EDA):c.872G>A (p.Gly291Glu) rs886042021
NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del) rs1602622972
NM_001399.5(EDA):c.883del (p.Val295fs)
NM_001399.5(EDA):c.889_898del (p.Val297fs)
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.896G>A (p.Gly299Asp) rs2147516523
NM_001399.5(EDA):c.904T>C (p.Phe302Leu)
NM_001399.5(EDA):c.912_913dup (p.Ser305fs) rs1569406514
NM_001399.5(EDA):c.916C>T (p.Gln306Ter) rs2147516557
NM_001399.5(EDA):c.917A>C (p.Gln306Pro)
NM_001399.5(EDA):c.924+1G>A rs2147516572
NM_001399.5(EDA):c.924+4A>T
NM_001399.5(EDA):c.948del (p.Phe317fs) rs727503010
NM_001399.5(EDA):c.960T>G (p.Tyr320Ter) rs876657687
NM_001399.5(EDA):c.961G>T (p.Glu321Ter) rs397516682
NM_001399.5(EDA):c.970G>A (p.Val324Met) rs1556110308
NM_001399.5(EDA):c.986T>C (p.Phe329Ser) rs1569407150
NM_001399.5(EDA):c.991C>T (p.Gln331Ter) rs727503011
NM_001399.5(EDA):c.998C>G (p.Thr333Arg) rs1556110379
NM_001399.5(EDA):c.[866G>C;868A>T]

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.