ClinVar Miner

List of variants studied for EEC syndrome by OMIM

Included ClinVar conditions (5):

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; 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; Premature ovarian failure 21
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; Premature ovarian failure 21
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: 9

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HGVS	dbSNP	gnomAD frequency
NM_003722.5(TP63):c.727C>T (p.Arg243Trp)	rs121908835	0.00001
NM_003722.5(TP63):c.728G>A (p.Arg243Gln)	rs121908836	0.00001
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)	rs121908841
NM_003722.5(TP63):c.1033T>C (p.Cys345Arg)	rs121908837
NM_003722.5(TP63):c.1052A>G (p.Asp351Gly)	rs121908844
NM_003722.5(TP63):c.1691dup (p.Tyr564Ter)	rs2108864810
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)	rs121908849
NM_003722.5(TP63):c.797G>C (p.Arg266Pro)	rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His)	rs121908840

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