List of variants in gene JAG1 reported as likely pathogenic by Neuberg Centre For Genomic Medicine, NCGM

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)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)	rs863223650
NM_000214.3(JAG1):c.1815_1821delinsAGG (p.Cys605_Ser607delinsTer)
NM_000214.3(JAG1):c.2844del (p.Lys947_Cys948insTer)
NM_000214.3(JAG1):c.2898_2899dup (p.Lys967fs)
NM_000214.3(JAG1):c.3003_3006dup (p.Glu1003fs)	rs2514508344
NM_000214.3(JAG1):c.3048+1G>T	rs876661121

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