List of variants in gene PTS reported as pathogenic by Baylor Genetics

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: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000317.3(PTS):c.317C>T (p.Thr106Met)	rs200712908	0.00010
NM_000317.3(PTS):c.84-291A>G	rs1480995114	0.00003
NM_000317.3(PTS):c.84-3C>G	rs1230781262	0.00002
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met)	rs370340361	0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)	rs765406631	0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)	rs104894280	0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)	rs145882709	0.00001
NM_000317.3(PTS):c.118_121del (p.Phe40fs)	rs747260038
NM_000317.3(PTS):c.166G>A (p.Val56Met)	rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)	rs770387277
NM_000317.3(PTS):c.186+1G>A
NM_000317.3(PTS):c.238A>G (p.Met80Val)	rs1057517810
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	rs104894276
NM_000317.3(PTS):c.272A>G (p.Lys91Arg)	rs761285716
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
NM_000317.3(PTS):c.308T>C (p.Val103Ala)	rs1555198459
NM_000317.3(PTS):c.315-2A>G	rs1555198483
NM_000317.3(PTS):c.331G>A (p.Ala111Thr)	rs1367077861
NM_000317.3(PTS):c.379C>T (p.Leu127Phe)	rs1859971515
NM_000317.3(PTS):c.393del (p.Val132fs)	rs780332520

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.