List of variants in gene PDSS2 reported as uncertain significance for Inborn genetic diseases

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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)	rs201388841	0.00027
NM_020381.4(PDSS2):c.50C>T (p.Ser17Leu)	rs373021095	0.00009
NM_020381.4(PDSS2):c.1096C>T (p.Arg366Cys)	rs370257390	0.00007
NM_020381.4(PDSS2):c.908A>G (p.Glu303Gly)	rs545787240	0.00004
NM_020381.4(PDSS2):c.1097G>A (p.Arg366His)	rs782590458	0.00003
NM_020381.4(PDSS2):c.382G>A (p.Val128Met)	rs201645466	0.00003
NM_020381.4(PDSS2):c.410T>C (p.Met137Thr)	rs1036022746	0.00003
NM_020381.4(PDSS2):c.919G>A (p.Asp307Asn)	rs1213284729	0.00003
NM_020381.4(PDSS2):c.199A>C (p.Met67Leu)	rs140933061	0.00001
NM_020381.4(PDSS2):c.332T>C (p.Leu111Ser)	rs2115246578	0.00001
NM_020381.4(PDSS2):c.523G>C (p.Asp175His)	rs1217767868	0.00001
NM_020381.4(PDSS2):c.737C>T (p.Thr246Ile)	rs148107195	0.00001
NM_020381.4(PDSS2):c.865A>G (p.Met289Val)	rs751931690	0.00001
NM_020381.4(PDSS2):c.1045C>T (p.Arg349Ter)	rs370370070
NM_020381.4(PDSS2):c.171G>C (p.Glu57Asp)
NM_020381.4(PDSS2):c.188C>T (p.Pro63Leu)
NM_020381.4(PDSS2):c.262G>T (p.Val88Leu)	rs545921648
NM_020381.4(PDSS2):c.319A>G (p.Asn107Asp)	rs2484468003
NM_020381.4(PDSS2):c.322A>C (p.Ser108Arg)
NM_020381.4(PDSS2):c.38A>G (p.Tyr13Cys)	rs1261763009
NM_020381.4(PDSS2):c.437G>A (p.Arg146Lys)	rs2483788984
NM_020381.4(PDSS2):c.455C>T (p.Thr152Met)
NM_020381.4(PDSS2):c.560T>G (p.Ile187Ser)
NM_020381.4(PDSS2):c.604G>A (p.Gly202Arg)	rs2483783637
NM_020381.4(PDSS2):c.635T>C (p.Val212Ala)	rs762431733
NM_020381.4(PDSS2):c.808G>A (p.Ala270Thr)
NM_020381.4(PDSS2):c.80C>T (p.Pro27Leu)
NM_020381.4(PDSS2):c.962A>C (p.His321Pro)
NM_020381.4(PDSS2):c.980G>T (p.Arg327Ile)

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.