List of variants in gene RBBP8 reported as uncertain significance for autosomal recessive disease

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)	rs148713374	0.00072
NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)	rs369234115	0.00021
NM_002894.3(RBBP8):c.927A>G (p.Ser309=)	rs370136343	0.00009
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.1939+20del	rs757282598
NM_002894.3(RBBP8):c.428+6T>C

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