List of variants in gene JAG1 reported as pathogenic by Istanbul Faculty of Medicine, Istanbul University

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.2026del (p.Cys676fs)	rs2514513693
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)	rs727504412
NM_000214.3(JAG1):c.2458+2_2458+4del	rs2514511557
NM_000214.3(JAG1):c.753C>A (p.Cys251Ter)	rs2514524411

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