ClinVar Miner

List of variants studied for EEC syndrome by 3billion

Included ClinVar conditions (3):

ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin syndrome; Split hand-foot malformation 4; Orofacial cleft 8
ADULT syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003722.5(TP63):c.1027C>T (p.Arg343Trp)	rs886041251
NM_003722.5(TP63):c.802G>A (p.Glu268Lys)	rs2108801803
NM_003722.5(TP63):c.953G>A (p.Arg318His)	rs121908840

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