ClinVar Miner

List of variants studied for Intellectual developmental disorder with dysmorphic facies and ptosis by Revvity Omics, Revvity

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001003694.2(BRPF1):c.535G>C (p.Val179Leu) rs747548475 0.00003
NM_001003694.2(BRPF1):c.482A>G (p.Asn161Ser) rs760729926 0.00002
NM_001003694.2(BRPF1):c.2219G>A (p.Arg740His) rs1359599082 0.00001
NM_001003694.2(BRPF1):c.976C>T (p.Arg326Cys) rs1385790156 0.00001
NM_001003694.2(BRPF1):c.1186G>T (p.Ala396Ser) rs2471472558
NM_001003694.2(BRPF1):c.1831C>T (p.Arg611Trp) rs1177286410
NM_001003694.2(BRPF1):c.2798del (p.Pro933fs) rs2125511510
NM_001003694.2(BRPF1):c.433A>G (p.Thr145Ala) rs774092120
NM_001003694.2(BRPF1):c.598del (p.Arg200fs) rs2471448650

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