ClinVar Miner

List of variants reported as uncertain significance for Immunodeficiency 23

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_015599.3(PGM3):c.-2-166C>G
NM_015599.3(PGM3):c.-2-208A>G
NM_015599.3(PGM3):c.-2-209C>A rs1438440008
NM_015599.3(PGM3):c.-2-226T>C rs373825865
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val)
NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu)
NM_015599.3(PGM3):c.1268T>C (p.Met423Thr) rs1554257039
NM_015599.3(PGM3):c.1268T>G (p.Met423Arg) rs1554257039
NM_015599.3(PGM3):c.1327C>G (p.Leu443Val) rs141509908
NM_015599.3(PGM3):c.1327C>T (p.Leu443Phe)
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) rs201593125
NM_015599.3(PGM3):c.1510G>A (p.Val504Ile)
NM_015599.3(PGM3):c.1592C>T (p.Ala531Val)
NM_015599.3(PGM3):c.1610G>T (p.Arg537Met)
NM_015599.3(PGM3):c.181G>T (p.Val61Leu)
NM_015599.3(PGM3):c.219A>G (p.Val73=) rs752657453
NM_015599.3(PGM3):c.325A>T (p.Ile109Phe) rs140499200
NM_015599.3(PGM3):c.389+3G>A rs201392846
NM_015599.3(PGM3):c.389+4A>G
NM_015599.3(PGM3):c.450A>G (p.Gln150=)
NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) rs73749732
NM_015599.3(PGM3):c.566A>G (p.Lys189Arg) rs1251637218
NM_015599.3(PGM3):c.618A>C (p.Arg206Ser)
NM_015599.3(PGM3):c.847G>A (p.Val283Ile)
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510

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.