ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_001399.4(EDA):c.(?_397)-340_(496_?)dup
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs) rs1556110934
NM_001399.5(EDA):c.161A>T (p.His54Leu) rs1569272194
NM_001399.5(EDA):c.164T>A (p.Leu55Gln) rs397516657
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn)
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.477A>T (p.Arg159Ser) rs876657640
NM_001399.5(EDA):c.503-2del
NM_001399.5(EDA):c.526+5G>A
NM_001399.5(EDA):c.526+5G>T rs397516664
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_001399.5(EDA):c.617C>T (p.Pro206Leu) rs1057520742
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001399.5(EDA):c.822G>T (p.Trp274Cys) rs397516675
NM_001399.5(EDA):c.865C>T (p.Arg289Cys) rs879255551
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.902A>G (p.Tyr301Cys) rs397516681
NM_001399.5(EDA):c.911A>C (p.Tyr304Ser) rs876657642
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr)

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