ClinVar Miner

List of variants studied for X-linked hypohidrotic ectodermal dysplasia by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 414
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.706+11_706+12del rs10579679 0.45223
NM_001399.5(EDA):c.742-11C>T rs2296765 0.30200
NM_001399.5(EDA):c.381C>T (p.Ser127=) rs148738342 0.00480
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_001399.5(EDA):c.60A>C (p.Arg20=) rs183801635 0.00033
NM_001399.5(EDA):c.464G>A (p.Arg155His) rs144403117 0.00026
NM_001399.5(EDA):c.833C>G (p.Thr278Ser) rs375753764 0.00016
NM_001399.5(EDA):c.435A>G (p.Pro145=) rs146844463 0.00014
NM_001399.5(EDA):c.390G>T (p.Gly130=) rs143746851 0.00012
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001399.5(EDA):c.741+9G>A rs751258727 0.00008
NM_001399.5(EDA):c.526+10T>G rs957016563 0.00007
NM_001399.5(EDA):c.870C>T (p.Ser290=) rs760869403 0.00007
NM_001399.5(EDA):c.1070G>A (p.Arg357Gln) rs61747506 0.00006
NM_001399.5(EDA):c.717T>G (p.Asp239Glu) rs766810445 0.00005
NM_001399.5(EDA):c.1080C>T (p.Ile360=) rs375844339 0.00004
NM_001399.5(EDA):c.1137C>T (p.Phe379=) rs780582849 0.00004
NM_001399.5(EDA):c.469A>G (p.Asn157Asp) rs374824991 0.00004
NM_001399.5(EDA):c.707-9A>G rs369843699 0.00004
NM_001399.5(EDA):c.804T>C (p.Gly268=) rs779193585 0.00004
NM_001399.5(EDA):c.808G>A (p.Val270Met) rs748191518 0.00004
NM_001399.5(EDA):c.1014G>A (p.Thr338=) rs750674219 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001399.5(EDA):c.1098C>T (p.His366=) rs1322090620 0.00003
NM_001399.5(EDA):c.111G>A (p.Gly37=) rs1301485954 0.00003
NM_001399.5(EDA):c.1124A>G (p.Lys375Arg) rs750739438 0.00003
NM_001399.5(EDA):c.1168G>A (p.Ala390Thr) rs746523921 0.00003
NM_001399.5(EDA):c.242C>T (p.Ser81Leu) rs780456712 0.00003
NM_001399.5(EDA):c.277C>T (p.Leu93Phe) rs746479442 0.00003
NM_001399.5(EDA):c.345A>G (p.Pro115=) rs775366784 0.00003
NM_001399.5(EDA):c.371A>G (p.His124Arg) rs751470511 0.00003
NM_001399.5(EDA):c.503-8T>C rs752434802 0.00003
NM_001399.5(EDA):c.56A>C (p.Glu19Ala) rs752730106 0.00003
NM_001399.5(EDA):c.1083C>T (p.Ala361=) rs780464771 0.00002
NM_001399.5(EDA):c.1099G>A (p.Ala367Thr) rs368531049 0.00002
NM_001399.5(EDA):c.132G>C (p.Leu44=) rs760109372 0.00002
NM_001399.5(EDA):c.135T>C (p.Gly45=) rs766017052 0.00002
NM_001399.5(EDA):c.157C>T (p.Leu53Phe) rs974684362 0.00002
NM_001399.5(EDA):c.301C>T (p.Pro101Ser) rs182251004 0.00002
NM_001399.5(EDA):c.396+10C>T rs754163471 0.00002
NM_001399.5(EDA):c.449A>G (p.Glu150Gly) rs764642744 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001399.5(EDA):c.503-5T>C rs183243858 0.00002
NM_001399.5(EDA):c.546T>C (p.Pro182=) rs758937877 0.00002
NM_001399.5(EDA):c.741+5G>T rs763687144 0.00002
NM_001399.5(EDA):c.759A>G (p.Leu253=) rs757048479 0.00002
NM_001399.5(EDA):c.1013C>T (p.Thr338Met) rs132630321 0.00001
NM_001399.5(EDA):c.1071G>A (p.Arg357=) rs1453813427 0.00001
NM_001399.5(EDA):c.1163C>A (p.Ala388Asp) rs755527924 0.00001
NM_001399.5(EDA):c.1170A>G (p.Ala390=) rs1373879719 0.00001
NM_001399.5(EDA):c.234T>C (p.Leu78=) rs1569272277 0.00001
NM_001399.5(EDA):c.249C>G (p.Thr83=) rs769141538 0.00001
NM_001399.5(EDA):c.346T>C (p.Leu116=) rs1217340038 0.00001
NM_001399.5(EDA):c.403C>T (p.Leu135=) rs765510570 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001399.5(EDA):c.502+10C>T rs771904661 0.00001
NM_001399.5(EDA):c.526+5G>C rs397516664 0.00001
NM_001399.5(EDA):c.558C>T (p.Gly186=) rs1569404832 0.00001
NM_001399.5(EDA):c.57G>A (p.Glu19=) rs758521262 0.00001
NM_001399.5(EDA):c.669T>G (p.Pro223=) rs1248603808 0.00001
NM_001399.5(EDA):c.707-5T>C rs761304256 0.00001
NM_001399.5(EDA):c.777A>C (p.Ala259=) rs777145505 0.00001
NM_001399.5(EDA):c.834T>G (p.Thr278=) rs749576852 0.00001
NM_001399.5(EDA):c.864C>T (p.Pro288=) rs1569406470 0.00001
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
NM_001399.5(EDA):c.879G>A (p.Leu293=) rs746437230 0.00001
NM_001399.5(EDA):c.924+9G>C rs761263650 0.00001
NM_001399.5(EDA):c.925-6A>G rs765272179 0.00001
NM_001399.5(EDA):c.990G>A (p.Leu330=) rs751769463 0.00001
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_001399.5(EDA):c.-36_47del (p.Met1fs) rs1931920527
NM_001399.5(EDA):c.1000C>T (p.Arg334Cys)
NM_001399.5(EDA):c.1008C>T (p.Ile336=) rs746241095
NM_001399.5(EDA):c.1009G>T (p.Glu337Ter) rs191378148
NM_001399.5(EDA):c.1010A>T (p.Glu337Val)
NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)
NM_001399.5(EDA):c.1022C>T (p.Thr341Ile)
NM_001399.5(EDA):c.1026C>T (p.Asn342=) rs2147519135
NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)
NM_001399.5(EDA):c.1029del (p.Asn342_Tyr343insTer)
NM_001399.5(EDA):c.1035T>C (p.Thr345=) rs2147519148
NM_001399.5(EDA):c.1036T>C (p.Cys346Arg)
NM_001399.5(EDA):c.1041T>C (p.Tyr347=) rs2020253809
NM_001399.5(EDA):c.1044C>T (p.Thr348=)
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) rs132630317
NM_001399.5(EDA):c.1045G>T (p.Ala349Ser) rs132630317
NM_001399.5(EDA):c.1048G>T (p.Gly350Cys) rs2147519167
NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)
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.1068C>T (p.Ala356=)
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.5(EDA):c.106G>A (p.Glu36Lys)
NM_001399.5(EDA):c.1074G>A (p.Gln358=) rs2147519229
NM_001399.5(EDA):c.1075A>G (p.Lys359Glu)
NM_001399.5(EDA):c.1091T>C (p.Met364Thr)
NM_001399.5(EDA):c.1093G>A (p.Val365Met) rs2147519270
NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs) rs1556110934
NM_001399.5(EDA):c.1104C>T (p.Asp368=) rs150292516
NM_001399.5(EDA):c.1106T>A (p.Ile369Asn) rs1569407331
NM_001399.5(EDA):c.1111A>T (p.Ile371Phe)
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.111G>C (p.Gly37=) rs1301485954
NM_001399.5(EDA):c.1133C>T (p.Thr378Met) rs1569407346
NM_001399.5(EDA):c.1143G>T (p.Gly381=)
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr) rs749830948
NM_001399.5(EDA):c.1144G>T (p.Ala382Ser)
NM_001399.5(EDA):c.1144del (p.Ala382fs)
NM_001399.5(EDA):c.1152G>T (p.Arg384Ser) rs2020256386
NM_001399.5(EDA):c.1167T>G (p.Pro389=)
NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr) rs2020256932
NM_001399.5(EDA):c.11C>G (p.Pro4Arg)
NM_001399.5(EDA):c.121C>T (p.Leu41=) rs2147197470
NM_001399.5(EDA):c.134G>A (p.Gly45Asp) rs1931938364
NM_001399.5(EDA):c.148T>G (p.Ser50Ala) rs1931939988
NM_001399.5(EDA):c.149C>G (p.Ser50Trp)
NM_001399.5(EDA):c.163C>G (p.Leu55Val) rs1602221926
NM_001399.5(EDA):c.166C>T (p.Leu56=)
NM_001399.5(EDA):c.167T>A (p.Leu56Gln) rs1569272203
NM_001399.5(EDA):c.170C>G (p.Thr57Arg)
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn) rs132630308
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.183C>T (p.Tyr61=) rs132630318
NM_001399.5(EDA):c.195C>A (p.Arg65=) rs2147197722
NM_001399.5(EDA):c.197C>T (p.Ser66Leu)
NM_001399.5(EDA):c.198G>A (p.Ser66=)
NM_001399.5(EDA):c.198G>C (p.Ser66=)
NM_001399.5(EDA):c.1A>G (p.Met1Val) rs2147196982
NM_001399.5(EDA):c.205C>T (p.Arg69Trp)
NM_001399.5(EDA):c.213del (p.Glu71fs) rs2147197808
NM_001399.5(EDA):c.215G>A (p.Arg72His)
NM_001399.5(EDA):c.216_220del (p.Gly73fs) rs2147197831
NM_001399.5(EDA):c.218G>C (p.Gly73Ala)
NM_001399.5(EDA):c.223G>T (p.Glu75Ter) rs2147197866
NM_001399.5(EDA):c.225G>A (p.Glu75=)
NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs) rs1555972067
NM_001399.5(EDA):c.234T>A (p.Leu78=) rs1569272277
NM_001399.5(EDA):c.239dup (p.Ser81fs) rs1555972071
NM_001399.5(EDA):c.243G>C (p.Ser81=)
NM_001399.5(EDA):c.243_251del (p.Pro84_Thr86del)
NM_001399.5(EDA):c.249C>T (p.Thr83=) rs769141538
NM_001399.5(EDA):c.250_258del (p.Pro84_Thr86del) rs763527972
NM_001399.5(EDA):c.252del (p.Gly85fs) rs1569272328
NM_001399.5(EDA):c.258C>T (p.Thr86=) rs1931955604
NM_001399.5(EDA):c.271dup (p.Ser91fs) rs1931956776
NM_001399.5(EDA):c.272dup (p.Ser91fs) rs397516656
NM_001399.5(EDA):c.273C>T (p.Ser91=)
NM_001399.5(EDA):c.288C>G (p.Leu96=)
NM_001399.5(EDA):c.28G>C (p.Glu10Gln)
NM_001399.5(EDA):c.28G>T (p.Glu10Ter)
NM_001399.5(EDA):c.2T>G (p.Met1Arg)
NM_001399.5(EDA):c.318T>C (p.Leu106=) rs1602222372
NM_001399.5(EDA):c.321G>A (p.Gly107=) rs2147198265
NM_001399.5(EDA):c.321G>C (p.Gly107=)
NM_001399.5(EDA):c.326dup (p.Ser110fs) rs2147198269
NM_001399.5(EDA):c.327G>C (p.Pro109=)
NM_001399.5(EDA):c.345A>T (p.Pro115=) rs775366784
NM_001399.5(EDA):c.354G>A (p.Pro118=)
NM_001399.5(EDA):c.354G>C (p.Pro118=) rs762842929
NM_001399.5(EDA):c.366A>C (p.Ala122=) rs1931965002
NM_001399.5(EDA):c.36G>A (p.Leu12=)
NM_001399.5(EDA):c.375T>C (p.Ser125=)
NM_001399.5(EDA):c.387C>G (p.Asp129Glu)
NM_001399.5(EDA):c.396+4dup rs1569272528
NM_001399.5(EDA):c.396+5G>C rs1931970978
NM_001399.5(EDA):c.396+9C>T rs1931971305
NM_001399.5(EDA):c.397-12T>C
NM_001399.5(EDA):c.397-16_397-11del
NM_001399.5(EDA):c.397-19G>A
NM_001399.5(EDA):c.397-1G>C
NM_001399.5(EDA):c.397-2A>T
NM_001399.5(EDA):c.397-6T>C
NM_001399.5(EDA):c.39T>C (p.Pro13=)
NM_001399.5(EDA):c.406T>C (p.Leu136=)
NM_001399.5(EDA):c.410A>T (p.Asn137Ile) rs2147419026
NM_001399.5(EDA):c.413_416del (p.Phe138fs) rs2019017595
NM_001399.5(EDA):c.414C>T (p.Phe138=)
NM_001399.5(EDA):c.42A>G (p.Ala14=)
NM_001399.5(EDA):c.440C>G (p.Ser147Cys) rs2147419080
NM_001399.5(EDA):c.441dup (p.Glu148Ter) rs2147419086
NM_001399.5(EDA):c.456G>A (p.Arg152=) rs2147419121
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.459T>C (p.Arg153=) rs2147419146
NM_001399.5(EDA):c.459T>G (p.Arg153=)
NM_001399.5(EDA):c.459dup (p.Val154fs) rs1569384962
NM_001399.5(EDA):c.462T>C (p.Val154=)
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.466_467delinsTC (p.Arg156Ser)
NM_001399.5(EDA):c.471T>C (p.Asn157=)
NM_001399.5(EDA):c.473A>G (p.Lys158Arg) rs982209417
NM_001399.5(EDA):c.476G>C (p.Arg159Thr) rs1556039084
NM_001399.5(EDA):c.479G>A (p.Ser160Asn) rs1556039088
NM_001399.5(EDA):c.486_487insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAAAGC (p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
NM_001399.5(EDA):c.48G>A (p.Ala16=) rs2147197188
NM_001399.5(EDA):c.494G>C (p.Gly165Ala) rs1057521131
NM_001399.5(EDA):c.497C>T (p.Ala166Val)
NM_001399.5(EDA):c.497del (p.Ala166fs) rs2147419276
NM_001399.5(EDA):c.502+10_502+14del
NM_001399.5(EDA):c.502+16T>C
NM_001399.5(EDA):c.503-13A>G
NM_001399.5(EDA):c.503-14T>C
NM_001399.5(EDA):c.503-2del rs1602614385
NM_001399.5(EDA):c.503-4A>C rs1602614380
NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs) rs1556092261
NM_001399.5(EDA):c.526+17A>G
NM_001399.5(EDA):c.526+1G>A rs2147503858
NM_001399.5(EDA):c.526+20A>C
NM_001399.5(EDA):c.526+5G>A rs397516664
NM_001399.5(EDA):c.527-18del
NM_001399.5(EDA):c.527-19A>G
NM_001399.5(EDA):c.527-2A>T rs1569404780
NM_001399.5(EDA):c.527-7T>C rs2147509468
NM_001399.5(EDA):c.527-9A>G
NM_001399.5(EDA):c.528A>G (p.Gly176=) rs2147509479
NM_001399.5(EDA):c.532A>G (p.Lys178Glu)
NM_001399.5(EDA):c.540A>G (p.Gly180=)
NM_001399.5(EDA):c.543_569del (p.Asn185_Pro193del)
NM_001399.5(EDA):c.546T>G (p.Pro182=) rs758937877
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) rs397516665
NM_001399.5(EDA):c.552C>A (p.Pro184=)
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.564A>G (p.Pro188=)
NM_001399.5(EDA):c.565G>A (p.Gly189Arg)
NM_001399.5(EDA):c.570C>T (p.Pro190=) rs1328353332
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.576_592del (p.Pro193fs) rs2147509622
NM_001399.5(EDA):c.582A>T (p.Pro194=) rs2147509679
NM_001399.5(EDA):c.585_697del (p.Pro196fs) rs2147509660
NM_001399.5(EDA):c.588C>A (p.Pro196=) rs2020137851
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.597C>T (p.Pro199=)
NM_001399.5(EDA):c.599del (p.Pro200fs) rs1556098570
NM_001399.5(EDA):c.599dup (p.Gly201fs) rs1556098570
NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del) rs1602618255
NM_001399.5(EDA):c.607C>G (p.Pro203Ala)
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.5(EDA):c.608C>T (p.Pro203Leu) rs2020138975
NM_001399.5(EDA):c.610G>A (p.Gly204Arg) rs2020139065
NM_001399.5(EDA):c.611G>A (p.Gly204Glu)
NM_001399.5(EDA):c.612G>A (p.Gly204=)
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_001399.5(EDA):c.613A>T (p.Ile205Phe) rs1556098680
NM_001399.5(EDA):c.614_699del (p.Ile205fs) rs2147509775
NM_001399.5(EDA):c.617C>T (p.Pro206Leu) rs1057520742
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.625C>T (p.Pro209Ser)
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.628G>C (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.636T>A (p.Thr212=)
NM_001399.5(EDA):c.641T>A (p.Met214Lys) rs1569404950
NM_001399.5(EDA):c.643G>T (p.Gly215Ter) rs2147509886
NM_001399.5(EDA):c.644G>A (p.Gly215Glu)
NM_001399.5(EDA):c.646C>T (p.Pro216Ser) rs1556098806
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.658C>G (p.Pro220Ala)
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.66C>T (p.Ser22=) rs2147197257
NM_001399.5(EDA):c.670G>C (p.Gly224Arg) rs1602618398
NM_001399.5(EDA):c.672T>C (p.Gly224=)
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.684C>T (p.Pro228=) rs1255651906
NM_001399.5(EDA):c.706+10_706+11del rs1347482754
NM_001399.5(EDA):c.706+13G>C
NM_001399.5(EDA):c.706+14T>A
NM_001399.5(EDA):c.706+14T>C
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001399.5(EDA):c.706+5G>T rs780966428
NM_001399.5(EDA):c.706+8C>A
NM_001399.5(EDA):c.707-13T>G rs2147511678
NM_001399.5(EDA):c.707-15T>G
NM_001399.5(EDA):c.707-17C>A
NM_001399.5(EDA):c.707-18T>G
NM_001399.5(EDA):c.707-7T>C
NM_001399.5(EDA):c.714T>C (p.Ala238=) rs2147511706
NM_001399.5(EDA):c.720del (p.Ala241fs)
NM_001399.5(EDA):c.730C>T (p.Arg244Ter) rs397516672
NM_001399.5(EDA):c.732A>T (p.Arg244=) rs2147511739
NM_001399.5(EDA):c.741+17T>C
NM_001399.5(EDA):c.741+18C>G
NM_001399.5(EDA):c.741+18C>T
NM_001399.5(EDA):c.741G>A (p.Gln247=) rs886042183
NM_001399.5(EDA):c.741G>T (p.Gln247His) rs886042183
NM_001399.5(EDA):c.742-20_742-17del
NM_001399.5(EDA):c.744A>G (p.Pro248=) rs2147512873
NM_001399.5(EDA):c.753G>T (p.Val251=)
NM_001399.5(EDA):c.759A>T (p.Leu253=)
NM_001399.5(EDA):c.764G>A (p.Gly255Asp) rs1064793105
NM_001399.5(EDA):c.766C>T (p.Gln256Ter) rs727504417
NM_001399.5(EDA):c.771G>A (p.Gly257=) rs2147512913
NM_001399.5(EDA):c.777A>G (p.Ala259=) rs777145505
NM_001399.5(EDA):c.793+10A>G
NM_001399.5(EDA):c.793+19T>C
NM_001399.5(EDA):c.793+19del
NM_001399.5(EDA):c.793+20C>G
NM_001399.5(EDA):c.794-11C>T rs2147516230
NM_001399.5(EDA):c.794-14_794-12del
NM_001399.5(EDA):c.794-1G>A rs2147516240
NM_001399.5(EDA):c.794-7T>C
NM_001399.5(EDA):c.794A>C (p.Asp265Ala)
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.798T>C (p.Leu266=) rs2147516257
NM_001399.5(EDA):c.801A>G (p.Ser267=) rs2147516275
NM_001399.5(EDA):c.803G>T (p.Gly268Val)
NM_001399.5(EDA):c.805G>A (p.Gly269Arg)
NM_001399.5(EDA):c.810G>A (p.Val270=)
NM_001399.5(EDA):c.814A>G (p.Asn272Asp) rs1556106742
NM_001399.5(EDA):c.822del (p.Trp274fs) rs397516676
NM_001399.5(EDA):c.826C>G (p.Arg276Gly)
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) rs387907197
NM_001399.5(EDA):c.827G>C (p.Arg276Pro)
NM_001399.5(EDA):c.827G>T (p.Arg276Leu) rs1057517731
NM_001399.5(EDA):c.831C>T (p.Ile277=)
NM_001399.5(EDA):c.836T>G (p.Met279Arg)
NM_001399.5(EDA):c.852T>C (p.Phe284=) rs2147516387
NM_001399.5(EDA):c.853A>G (p.Lys285Glu) rs1556106974
NM_001399.5(EDA):c.858A>G (p.Leu286=) rs2147516404
NM_001399.5(EDA):c.865C>T (p.Arg289Cys) rs879255551
NM_001399.5(EDA):c.866_867delinsAA (p.Arg289Gln) rs2020226101
NM_001399.5(EDA):c.867C>A (p.Arg289=) rs1471642587
NM_001399.5(EDA):c.867C>T (p.Arg289=)
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.873G>A (p.Gly291=)
NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del) rs1602622972
NM_001399.5(EDA):c.881A>T (p.Glu294Val) rs397516678
NM_001399.5(EDA):c.883del (p.Val295fs)
NM_001399.5(EDA):c.885A>G (p.Val295=)
NM_001399.5(EDA):c.885_890del (p.Leu296_Val297del) rs2147516497
NM_001399.5(EDA):c.886C>T (p.Leu296=)
NM_001399.5(EDA):c.889_898del (p.Val297fs)
NM_001399.5(EDA):c.894C>T (p.Asp298=) rs1602623024
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.895G>T (p.Gly299Cys)
NM_001399.5(EDA):c.896G>A (p.Gly299Asp) rs2147516523
NM_001399.5(EDA):c.897C>T (p.Gly299=)
NM_001399.5(EDA):c.901T>G (p.Tyr301Asp) rs2020226899
NM_001399.5(EDA):c.904T>C (p.Phe302Leu)
NM_001399.5(EDA):c.90C>A (p.Ala30=)
NM_001399.5(EDA):c.914G>A (p.Ser305Asn) rs2020227357
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+14T>G
NM_001399.5(EDA):c.924+15A>C
NM_001399.5(EDA):c.924+1G>A rs2147516572
NM_001399.5(EDA):c.924+20T>G
NM_001399.5(EDA):c.924+4A>T
NM_001399.5(EDA):c.924+5G>A rs2020227617
NM_001399.5(EDA):c.924+8C>A rs370406516
NM_001399.5(EDA):c.924+8C>T
NM_001399.5(EDA):c.924+9G>A
NM_001399.5(EDA):c.925-11C>T
NM_001399.5(EDA):c.925-13G>A
NM_001399.5(EDA):c.925-17T>G
NM_001399.5(EDA):c.927A>G (p.Val309=)
NM_001399.5(EDA):c.928T>G (p.Tyr310Asp)
NM_001399.5(EDA):c.930C>T (p.Tyr310=)
NM_001399.5(EDA):c.935T>C (p.Ile312Thr) rs1791938725
NM_001399.5(EDA):c.941T>C (p.Phe314Ser) rs1556110180
NM_001399.5(EDA):c.948C>G (p.Asp316Glu)
NM_001399.5(EDA):c.950T>G (p.Phe317Cys) rs2020251589
NM_001399.5(EDA):c.958T>C (p.Tyr320His)
NM_001399.5(EDA):c.958T>G (p.Tyr320Asp) rs1416551006
NM_001399.5(EDA):c.959A>C (p.Tyr320Ser)
NM_001399.5(EDA):c.960T>C (p.Tyr320=)
NM_001399.5(EDA):c.970G>A (p.Val324Met) rs1556110308
NM_001399.5(EDA):c.973G>T (p.Asp325Tyr) rs2147519024
NM_001399.5(EDA):c.97C>A (p.Arg33=)
NM_001399.5(EDA):c.97C>T (p.Arg33Trp) rs1168030930
NM_001399.5(EDA):c.986T>C (p.Phe329Ser) rs1569407150
NM_001399.5(EDA):c.986T>G (p.Phe329Cys)
NM_001399.5(EDA):c.988C>T (p.Leu330=) rs2147519044
NM_001399.5(EDA):c.991C>T (p.Gln331Ter) rs727503011
NM_001399.5(EDA):c.993G>A (p.Gln331=)
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr) rs1602624745
NM_001399.5(EDA):c.998C>G (p.Thr333Arg) rs1556110379

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.