List of variants reported as benign for PGM1-CDG by Invitae

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

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP
NM_002633.3(PGM1):c.1145-7C>G	rs72922609
NM_002633.3(PGM1):c.1280+7C>T	rs72922610
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)	rs150266274
NM_002633.3(PGM1):c.1500C>T (p.Ile500=)	rs61737416
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile)	rs6676290
NM_002633.3(PGM1):c.1599+9C>T	rs115864084
NM_002633.3(PGM1):c.18A>G (p.Thr6=)	rs111246749
NM_002633.3(PGM1):c.399T>C (p.Ile133=)	rs1126727
NM_002633.3(PGM1):c.573G>A (p.Ser191=)	rs112502842
NM_002633.3(PGM1):c.987C>T (p.Arg329=)	rs79097301

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.