List of variants in gene JAG1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.-384T>G	rs559044448	0.00399
NM_000214.3(JAG1):c.1721-21G>A	rs35357944	0.00396
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)	rs145895196	0.00180
NM_000214.3(JAG1):c.2301G>A (p.Thr767=)	rs147634857	0.00153
NM_000214.3(JAG1):c.909T>C (p.His303=)	rs139574260	0.00119
NM_000214.3(JAG1):c.1578C>T (p.Ile526=)	rs1801139	0.00092
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)	rs147793030	0.00089
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)	rs147809756	0.00069
NM_000214.3(JAG1):c.1389C>T (p.Ser463=)	rs147229008	0.00051
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)	rs202063628	0.00042
NM_000214.3(JAG1):c.894T>C (p.Asn298=)	rs149897344	0.00039
NM_000214.3(JAG1):c.388-4G>C	rs567027490	0.00031
NM_000214.3(JAG1):c.414G>A (p.Ala138=)	rs371682149	0.00026
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)	rs143966918	0.00014
NM_000214.3(JAG1):c.2286C>T (p.Asn762=)	rs144190443	0.00013
NM_000214.3(JAG1):c.1146C>T (p.Asn382=)	rs200133928	0.00011
NM_000214.3(JAG1):c.1344C>T (p.Asp448=)	rs754081766	0.00007
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu)	rs201785359	0.00006
NM_000214.3(JAG1):c.1383C>T (p.Asp461=)	rs140604589	0.00005
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)	rs751809412	0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)	rs201572666	0.00005
NM_000214.3(JAG1):c.1308C>T (p.Cys436=)	rs764485729	0.00002
NM_000214.3(JAG1):c.2199C>T (p.Gly733=)	rs756062969	0.00002
NM_000214.3(JAG1):c.2502C>T (p.Thr834=)	rs779052259	0.00001
NM_000214.3(JAG1):c.264C>T (p.Ala88=)	rs1473297367	0.00001
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)	rs747142039	0.00001
NM_000214.3(JAG1):c.3564C>T (p.Gly1188=)	rs376816243	0.00001
NM_000214.3(JAG1):c.*1531TG[1]	rs765273169
NM_000214.3(JAG1):c.*959GTTT[2]	rs748163677

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.