List of variants in gene JAG1 reported as pathogenic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1181dup (p.Asn394fs)	rs2514519192
NM_000214.3(JAG1):c.1961del (p.Ile654fs)	rs2514514441
NM_000214.3(JAG1):c.2328dup (p.Pro777fs)	rs2514512861
NM_000214.3(JAG1):c.396T>A (p.Tyr132Ter)
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter)	rs2122644940

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