ClinVar Miner

List of variants in gene EDA reported as pathogenic for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 194
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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.(?_68836153)_(69255459_?)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.(?_69616225)_(69616454_?)del
NC_000023.11:g.(?_69616289)_(69616724_?)del
NC_000023.11:g.(?_69616289)_(69670280_?)del
NC_000023.11:g.(?_69956687)_(69957126_?)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.(?_70023130)_(70035609_?)del
NC_000023.11:g.(?_70035338)_(70035629_?)del
NC_000023.11:g.70027876_70027911del rs397516665
NC_000023.11:g.70027892_70027919del rs397516667
NC_000023.11:g.70027902_70027919del rs397516668
NC_000023.11:g.70027993_70028027del rs397516670
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.(?_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.167T>C (p.Leu56Pro)
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.382del (p.Gln128fs)
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.397-2A>T
NM_001399.5(EDA):c.413_416del (p.Phe138fs) rs2019017595
NM_001399.5(EDA):c.441dup (p.Glu148Ter) rs2147419086
NM_001399.5(EDA):c.448G>T (p.Glu150Ter)
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.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.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.585_706+6delinsTCCTCCTGGTCC
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.599C>T (p.Pro200Leu)
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.610G>A (p.Gly204Arg) rs2020139065
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.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.742-2A>G
NM_001399.5(EDA):c.754C>T (p.His252Tyr)
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.850T>C (p.Phe284Leu)
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.872G>T (p.Gly291Val)
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.931del (p.Tyr311fs)
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.984dup (p.Phe329fs)
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.99_100dup (p.Ala34fs)
NM_001399.5(EDA):c.[866G>C;868A>T]

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