ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant hypohidrotic ectodermal dysplasia by Biotechnology Lab, Dept of Biomolecular Sciences, University of Urbino

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.287T>C (p.Phe96Ser) rs1697319420

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