List of variants in gene GNPTAB reported as uncertain significance by GeneDx

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met)	rs183435240	0.00029
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)	rs141329633	0.00022
NM_024312.5(GNPTAB):c.2705A>G (p.Asp902Gly)	rs375156660	0.00007
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)	rs149390820	0.00006
NM_024312.5(GNPTAB):c.1778A>T (p.Asn593Ile)	rs188192351	0.00006
NM_024312.5(GNPTAB):c.1818G>A (p.Met606Ile)	rs770996690	0.00004
NM_024312.5(GNPTAB):c.117G>T (p.Glu39Asp)	rs765682282	0.00003
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr)	rs376620571	0.00001
NM_024312.5(GNPTAB):c.3265A>T (p.Ser1089Cys)	rs766107961	0.00001
NM_024312.5(GNPTAB):c.452T>G (p.Leu151Arg)	rs200015550	0.00001
NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe)	rs374600127
NM_024312.5(GNPTAB):c.2852G>A (p.Arg951Gln)	rs777346722
NM_024312.5(GNPTAB):c.964C>T (p.Arg322Cys)	rs2137124252

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.