List of variants reported as likely benign for Glycogen storage disease, type II by Illumina Laboratory Services, Illumina

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.-260G>C	rs2304849	0.16933
NM_000152.5(GAA):c.*139dup	rs865903736	0.10981
NM_000152.5(GAA):c.-178G>A	rs77514632	0.02487
NM_000152.5(GAA):c.-338C>G	rs144639114	0.02435
NM_017950.4(CCDC40):c.*654A>C	rs2289538	0.02366
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)	rs1800299	0.02215
NM_017950.4(CCDC40):c.*265C>T	rs74000393	0.01774
NM_000152.5(GAA):c.1075+13C>T	rs41292402	0.01065
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)	rs61740509	0.00831
NM_000152.5(GAA):c.2400C>T (p.Ser800=)	rs115705591	0.00724
NM_000152.5(GAA):c.852G>A (p.Ala284=)	rs142626724	0.00638
NM_000152.5(GAA):c.2580C>T (p.Asp860=)	rs61736894	0.00459
NM_000152.5(GAA):c.447G>A (p.Thr149=)	rs2289536	0.00362
NM_000152.5(GAA):c.2571G>T (p.Leu857=)	rs17853996	0.00319
NM_000152.5(GAA):c.858+8G>A	rs5822325	0.00055
NM_000152.5(GAA):c.2478G>A (p.Leu826=)	rs201183207	0.00031
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)	rs377286472	0.00002
NM_000152.5(GAA):c.-75C>G	rs80020206

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.