List of variants in gene BRPF1 reported as pathogenic for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter)	rs1057519510
NM_001003694.2(BRPF1):c.1414del (p.Glu472fs)	rs2077000019
NM_001003694.2(BRPF1):c.1745G>A (p.Trp582Ter)
NM_001003694.2(BRPF1):c.2308_2309del (p.Asp770fs)	rs1553696275
NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs)
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs)	rs762904815
NM_001003694.2(BRPF1):c.28_29del (p.Phe10fs)	rs1553693712
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter)	rs2125500187
NM_001003694.2(BRPF1):c.883_884del (p.Met295fs)
NM_001003694.2(BRPF1):c.917del (p.Gly306fs)	rs2076991221

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