List of variants reported as uncertain significance by Genetics Department, University Hospital of Toulouse

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000280.4(PAX6):c.-7421C>T	rs537446654	0.00248
NM_006439.5(MAB21L2):c.457G>A (p.Ala153Thr)	rs139813980	0.00035
NM_000428.3(LTBP2):c.2240A>G (p.Glu747Gly)	rs142564366	0.00026
NM_003238.6(TGFB2):c.386T>C (p.Ile129Thr)	rs752823052	0.00005
NM_194318.4(B3GLCT):c.1184+3A>G	rs1338898111	0.00001
NM_000264.5(PTCH1):c.2500T>G (p.Leu834Val)	rs1840080865
NM_001130145.3(YAP1):c.761A>G (p.Lys254Arg)	rs1947930460
NM_001368894.2(PAX6):c.399+136G>A	rs1565237004
NM_001368894.2(PAX6):c.399+334G>A	rs1565236383
NM_001378452.1(ITPR1):c.4249C>T (p.Arg1417Cys)	rs1168676216
NM_012193.4(FZD4):c.1468A>T (p.Thr490Ser)	rs765834466
NM_012293.3(PXDN):c.2569T>C (p.Cys857Arg)	rs1682948313

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.