ClinVar Miner

List of variants reported as pathogenic for X-linked hypohidrotic ectodermal dysplasia by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
EDA, 1-BP DEL, EX6
EDA, 36-BP DEL, EX5
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) rs132630317
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.206G>T (p.Arg69Leu) rs132630309
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312
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.573_574insT (p.Gly192fs) rs1569404873
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.671G>C (p.Gly224Ala) rs132630316
NM_001399.5(EDA):c.67C>T (p.Gln23Ter) rs132630310
NM_001399.5(EDA):c.755A>T (p.His252Leu) rs879255552
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) rs387907197
NM_001399.5(EDA):c.910_911TA[3] (p.Ser305fs) rs1569406514

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