List of variants in gene HSPG2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val)	rs141901178	0.00244
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser)	rs147707402	0.00010
NM_005529.7(HSPG2):c.10740G>A (p.Met3580Ile)	rs374473164	0.00007
NM_005529.7(HSPG2):c.5423G>A (p.Arg1808His)	rs561392976	0.00001
NM_005529.7(HSPG2):c.11648C>G (p.Ser3883Trp)	rs138145234
NM_005529.7(HSPG2):c.11672-7C>T	rs1572150433
NM_005529.7(HSPG2):c.2821G>A (p.Ala941Thr)	rs776154012
NM_005529.7(HSPG2):c.4592G>A (p.Arg1531His)
NM_005529.7(HSPG2):c.8587C>T (p.Arg2863Cys)

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.