ClinVar Miner

List of variants reported as likely benign for 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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003722.5(TP63):c.84T>G (p.His28Gln)	rs370716448	0.00009
NM_003722.5(TP63):c.1661C>T (p.Ala554Val)
NM_003722.5(TP63):c.475C>T (p.Leu159Phe)	rs752603187

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