ClinVar Miner

List of variants studied for Intellectual developmental disorder with dysmorphic facies and ptosis by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001003694.2(BRPF1):c.63C>T (p.Tyr21=) rs116359925 0.00175
NM_001003694.2(BRPF1):c.2420_2433del (p.Gln807fs) rs2471501529
NM_001003694.2(BRPF1):c.452A>T (p.His151Leu)

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