ClinVar Miner

List of variants reported as likely pathogenic for Hypohidrotic ectodermal dysplasia

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Total variants: 10
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HGVS dbSNP
NM_001399.4(EDA):c.(?_397)-340_(496_?)dup
NM_001399.4(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.4(EDA):c.164T>A (p.Leu55Gln) rs397516657
NM_001399.4(EDA):c.477A>T (p.Arg159Ser) rs876657640
NM_001399.4(EDA):c.526+5G>T rs397516664
NM_001399.4(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.4(EDA):c.822G>T (p.Trp274Cys) rs397516675
NM_001399.4(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.4(EDA):c.902A>G (p.Tyr301Cys) rs397516681
NM_001399.4(EDA):c.911A>C (p.Tyr304Ser) rs876657642

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