ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Hacettepe Pediatric Genetics Laboratory, Hacettepe University

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.1724A>G (p.Gln575Arg)
NM_003722.5(TP63):c.1802T>C (p.Ile601Thr)
NM_144991.3(TSPEAR):c.1594_1595insA (p.Phe532fs)

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