List of variants in gene BRPF1 reported as likely pathogenic for syndromic intellectual disability

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001003694.2(BRPF1):c.1038del (p.Arg347fs)	rs2125500625
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs)	rs2076994968
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)	rs2125501418
NM_001003694.2(BRPF1):c.1612C>T (p.Gln538Ter)
NM_001003694.2(BRPF1):c.1667T>A (p.Leu556Ter)	rs2125503212
NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs)	rs1559662068
NM_001003694.2(BRPF1):c.1759C>T (p.Gln587Ter)	rs1559662077
NM_001003694.2(BRPF1):c.2004_2005del (p.Val668_Pro669insTer)
NM_001003694.2(BRPF1):c.2921-2A>C
NM_001003694.2(BRPF1):c.2T>G (p.Met1Arg)	rs2125489641
NM_001003694.2(BRPF1):c.3068+1G>T	rs2077101479
NM_001003694.2(BRPF1):c.3069-1G>A
NM_001003694.2(BRPF1):c.3263dup (p.Leu1089fs)	rs2125515297
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del)	rs1553697341
NM_001003694.2(BRPF1):c.67T>C (p.Cys23Arg)	rs2076901423
NM_001003694.2(BRPF1):c.898G>A (p.Val300Met)	rs2125500407

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