ClinVar Miner

List of variants in gene RBBP8 studied for Jawad syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 7
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NM_002894.2(RBBP8):c.1808_1809delTA (p.Ile603Lysfs) rs587776884
NM_002894.3(RBBP8):c.1457_1458del (p.Val486fs)
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)
NM_002894.3(RBBP8):c.2435C>T (p.Thr812Met)
NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln) rs140196819
NM_002894.3(RBBP8):c.317_318del (p.Glu105_Phe106insTer)
NM_002894.3(RBBP8):c.927A>G (p.Ser309=) rs370136343

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