List of variants in gene JAG1 reported by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.133G>T (p.Val45Leu)	rs183974372	0.00054
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)	rs368438076	0.00012
NM_000214.3(JAG1):c.1036C>T (p.His346Tyr)	rs2067347304
NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs)	rs1568796241
NM_000214.3(JAG1):c.1724T>C (p.Ile575Thr)	rs2067314756
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg)	rs2067299833
NM_000214.3(JAG1):c.2372+1G>T	rs2067293664
NM_000214.3(JAG1):c.2393T>C (p.Val798Ala)	rs1308346607
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs)	rs2067268275
NM_000214.3(JAG1):c.359T>C (p.Ile120Thr)	rs2514537675
NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)	rs2514521680
NM_000214.3(JAG1):c.925G>T (p.Gly309Trp)	rs750195672

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.