ClinVar Miner

List of variants reported as uncertain significance for Stuve-Wiedemann syndrome by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg) rs146856673 0.00044
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly) rs147058538 0.00022
NM_001127671.2(LIFR):c.2671-10T>G rs201596849 0.00013
NM_001127671.2(LIFR):c.1992G>A (p.Ser664=) rs142392717 0.00006
NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys) rs373421600 0.00004
NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val) rs994405607 0.00004
NM_001127671.2(LIFR):c.3132T>C (p.Ser1044=) rs745548189 0.00004
NM_001127671.2(LIFR):c.1965C>T (p.Cys655=) rs767618083 0.00003
NM_001127671.2(LIFR):c.2445A>G (p.Thr815=) rs570053542 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001127671.2(LIFR):c.2887G>A (p.Ala963Thr) rs770022153 0.00002
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) rs761024368 0.00001
NM_001127671.2(LIFR):c.96A>G (p.Thr32=) rs771905123 0.00001
NM_001127671.2(LIFR):c.1417T>C (p.Ser473Pro) rs543824186
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val) rs544925449
NM_001127671.2(LIFR):c.183A>C (p.Gln61His) rs1243202901
NM_001127671.2(LIFR):c.231T>C (p.Thr77=) rs2112564224

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.