ClinVar Miner

List of variants reported as likely pathogenic for Alagille syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.2278del (p.Val760fs)
NM_000214.3(JAG1):c.2385del (p.Thr796fs) rs1568793309
NM_000214.3(JAG1):c.2628_2635del (p.Trp876_Asp879delinsTer)
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) rs876661122
NM_000214.3(JAG1):c.2732G>A (p.Cys911Tyr)
NM_000214.3(JAG1):c.2914C>G (p.Pro972Ala)
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) rs1555831014
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter)
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg) rs1555829660
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser) rs1555829415
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668

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.