List of variants in gene JAG1 reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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.1452_1453del (p.Cys484_Glu485delinsTer)	rs1568796236
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)	rs886039393
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)	rs863223655
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)	rs121918350
NM_000214.3(JAG1):c.551G>A (p.Arg184His)	rs121918351
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)	rs876660980

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