ClinVar Miner

List of variants reported as likely benign for Stuve-Wiedemann syndrome by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.789A>G (p.Val263=) rs141925289 0.00321
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=) rs370455274 0.00010
NM_001127671.2(LIFR):c.2886C>T (p.Ala962=) rs775970749 0.00010
NM_001127671.2(LIFR):c.2591+6A>T rs372291945 0.00009
NM_001127671.2(LIFR):c.1722G>A (p.Ser574=) rs200521119 0.00008
NM_001127671.2(LIFR):c.2463G>A (p.Pro821=) rs749085598 0.00008
NM_001127671.2(LIFR):c.2529A>G (p.Pro843=) rs779533679 0.00005
NM_001127671.2(LIFR):c.1080G>A (p.Ala360=) rs769294023 0.00004
NM_001127671.2(LIFR):c.1974C>T (p.Val658=) rs762685098 0.00004
NM_001127671.2(LIFR):c.2217G>A (p.Ser739=) rs747295716 0.00004
NM_001127671.2(LIFR):c.1221T>C (p.Asn407=) rs372077841 0.00003
NM_001127671.2(LIFR):c.15C>T (p.Tyr5=) rs778287994 0.00003
NM_001127671.2(LIFR):c.552C>T (p.Leu184=) rs370454146 0.00002
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381 0.00001
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) rs756161883 0.00001
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=) rs139809889
NM_001127671.2(LIFR):c.1365A>G (p.Leu455=) rs1204654428
NM_001127671.2(LIFR):c.143-5_143-3del rs778581246
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751

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.