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: 108
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HGVS dbSNP
NC_000023.10:g.(?_68836133)_(69255479_?)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.(?_69243048)_(69255479_?)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)
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132
NM_001399.5(EDA):c.1013C>T (p.Thr338Met) rs132630321
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) rs132630317
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.1070G>A (p.Arg357Gln) rs61747506
NM_001399.5(EDA):c.1080C>T (p.Ile360=) rs375844339
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654
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.1116C>G (p.Asn372Lys)
NM_001399.5(EDA):c.1133C>T (p.Thr378Met) rs1569407346
NM_001399.5(EDA):c.1168G>A (p.Ala390Thr) rs746523921
NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr)
NM_001399.5(EDA):c.134G>A (p.Gly45Asp)
NM_001399.5(EDA):c.135T>C (p.Gly45=) rs766017052
NM_001399.5(EDA):c.148T>G (p.Ser50Ala)
NM_001399.5(EDA):c.167T>A (p.Leu56Gln) rs1569272203
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.206G>T (p.Arg69Leu) rs132630309
NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs) rs1555972067
NM_001399.5(EDA):c.239dup (p.Ser81fs) rs1555972071
NM_001399.5(EDA):c.242C>T (p.Ser81Leu) rs780456712
NM_001399.5(EDA):c.252del (p.Gly85fs) rs1569272328
NM_001399.5(EDA):c.271dup (p.Ser91fs)
NM_001399.5(EDA):c.301C>T (p.Pro101Ser) rs182251004
NM_001399.5(EDA):c.381C>T (p.Ser127=) rs148738342
NM_001399.5(EDA):c.390G>T (p.Gly130=) rs143746851
NM_001399.5(EDA):c.396+4dup rs1569272528
NM_001399.5(EDA):c.396+5G>C
NM_001399.5(EDA):c.413_416del (p.Phe138fs)
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493
NM_001399.5(EDA):c.459dup (p.Val154fs) rs1569384962
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312
NM_001399.5(EDA):c.464G>A (p.Arg155His) rs144403117
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314
NM_001399.5(EDA):c.469A>G (p.Asn157Asp) rs374824991
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.491A>C (p.Glu164Ala) rs397516663
NM_001399.5(EDA):c.494G>C (p.Gly165Ala) rs1057521131
NM_001399.5(EDA):c.503-2del rs1602614385
NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs) rs1556092261
NM_001399.5(EDA):c.526+5G>A rs397516664
NM_001399.5(EDA):c.526+5G>C rs397516664
NM_001399.5(EDA):c.527-2A>T rs1569404780
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) rs397516665
NM_001399.5(EDA):c.560dup (p.Pro188fs) rs1556098384
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001399.5(EDA):c.589del (p.Gln197fs)
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.608C>T (p.Pro203Leu)
NM_001399.5(EDA):c.610G>A (p.Gly204Arg)
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.617C>T (p.Pro206Leu) rs1057520742
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.641T>A (p.Met214Lys) rs1569404950
NM_001399.5(EDA):c.646C>T (p.Pro216Ser) rs1556098806
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
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.673_706+2del
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.706+1G>A rs886039344
NM_001399.5(EDA):c.706+5G>T rs780966428
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.766C>T (p.Gln256Ter) rs727504417
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.804T>C (p.Gly268=) rs779193585
NM_001399.5(EDA):c.814A>G (p.Asn272Asp) rs1556106742
NM_001399.5(EDA):c.853A>G (p.Lys285Glu) rs1556106974
NM_001399.5(EDA):c.865C>T (p.Arg289Cys) rs879255551
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641
NM_001399.5(EDA):c.870C>T (p.Ser290=) rs760869403
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) rs397516677
NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del) rs1602622972
NM_001399.5(EDA):c.901T>G (p.Tyr301Asp)
NM_001399.5(EDA):c.924+5G>A
NM_001399.5(EDA):c.941T>C (p.Phe314Ser) rs1556110180
NM_001399.5(EDA):c.970G>A (p.Val324Met) rs1556110308
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.995G>A (p.Cys332Tyr) rs1602624745

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