List of variants reported as uncertain significance for Glycogen storage disease, type V 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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.645G>A (p.Lys215=)	rs116315896	0.00530
NM_005609.4(PYGM):c.660G>A (p.Gln220=)	rs142234258	0.00161
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	rs116135678	0.00074
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu)	rs372851103	0.00011
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys)	rs200481790	0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)	rs139230055	0.00010
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)	rs769805782	0.00002
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser)	rs765656412	0.00002
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp)	rs759260599	0.00002
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln)	rs756303162	0.00001
NM_005609.4(PYGM):c.1702G>A (p.Val568Met)	rs757791045	0.00001
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn)	rs551666681	0.00001
NM_005609.4(PYGM):c.1448A>C (p.Lys483Thr)	rs2135832293
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile)	rs1555134900
NM_005609.4(PYGM):c.2342A>G (p.Tyr781Cys)	rs2135823341
NM_005609.4(PYGM):c.307C>G (p.Leu103Val)	rs2135840833

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.