ClinVar Miner

List of variants reported as likely pathogenic for Jawad syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (2):

Jawad syndrome
Jawad syndrome; Seckel syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_002894.3(RBBP8):c.1457_1458del (p.Val486fs)	rs1915827870

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