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 ectodermal dysplasia syndrome; Split hand-foot malformation 4; Orofacial cleft 8 by Fulgent Genetics, Fulgent Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_003722.5(TP63):c.1788G>A (p.Ala596=) rs148577576 0.00180
NM_003722.5(TP63):c.498C>T (p.Pro166=) rs146612442 0.00041
NM_003722.5(TP63):c.1599C>T (p.Ser533=) rs758093495 0.00018
NM_003722.5(TP63):c.1575C>T (p.Leu525=) rs147389337 0.00011
NM_003722.5(TP63):c.882+19A>T rs200703504 0.00008
NM_003722.5(TP63):c.1095G>A (p.Ser365=) rs748609799 0.00006
NM_003722.5(TP63):c.1626G>A (p.Pro542=) rs370637253 0.00005
NM_003722.5(TP63):c.654A>G (p.Pro218=) rs764672477 0.00005
NM_003722.5(TP63):c.366G>A (p.Gln122=) rs201774402 0.00003
NM_003722.5(TP63):c.402T>C (p.Tyr134=) rs201239102 0.00003
NM_003722.5(TP63):c.714G>A (p.Thr238=) rs773030906 0.00003
NM_003722.5(TP63):c.992+8G>A rs192488893 0.00003
NM_003722.5(TP63):c.156A>G (p.Pro52=) rs780898702 0.00001
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00001
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003722.5(TP63):c.20G>T (p.Arg7Leu) rs568702479

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