List of variants in gene RBBP8 reported as likely pathogenic for Jawad syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	rs373804633	0.00007
NM_002894.3(RBBP8):c.1457_1458del (p.Val486fs)	rs1915827870
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)	rs2045882525
NM_002894.3(RBBP8):c.2287+1G>A	rs2045952037

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