List of variants in gene PTS reported as uncertain significance by Counsyl

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)	rs762894736	0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu)	rs150726932	0.00003
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)	rs779681799	0.00002
NM_000317.3(PTS):c.187A>G (p.Ile63Val)	rs778053171	0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys)	rs200279736	0.00001
NM_000317.3(PTS):c.289G>A (p.Val97Met)	rs750455879	0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)	rs104894279	0.00001
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)	rs1449216377
NM_000317.3(PTS):c.118T>C (p.Phe40Leu)	rs1555198118
NM_000317.3(PTS):c.164-7T>A	rs1555198232
NM_000317.3(PTS):c.248C>A (p.Ala83Glu)	rs775426269
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys)	rs1555198458
NM_000317.3(PTS):c.326A>G (p.Asn109Ser)	rs1361000720
NM_000317.3(PTS):c.340A>G (p.Ile114Val)	rs1555198495
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)	rs779681799
NM_000317.3(PTS):c.402A>C (p.Glu134Asp)	rs746993982

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.