List of variants in gene RBBP8 reported as uncertain significance for Jawad syndrome; Seckel syndrome 2

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)	rs148713374	0.00064
NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln)	rs140196819	0.00051
NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)	rs369234115	0.00021
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	rs373804633	0.00007
NM_002894.3(RBBP8):c.293A>G (p.His98Arg)	rs146649234	0.00004
NM_002894.3(RBBP8):c.1243T>A (p.Ser415Thr)	rs769800397	0.00003
NM_002894.3(RBBP8):c.1939+20del	rs757282598
NM_002894.3(RBBP8):c.2329G>A (p.Val777Met)

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