List of variants reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2O by Genome-Nilou Lab

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)	rs199534074	0.00004
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)	rs776165339	0.00003
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)	rs556069604	0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)	rs774752168	0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)	rs148131756	0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)	rs754653320	0.00001
NM_017739.4(POMGNT1):c.*457C>T	rs1657513729
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)	rs752591703
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)	rs2148167563
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)	rs972657462
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)	rs2148202208

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.