ClinVar Miner

List of variants in gene PGM3 studied for PGM3-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP
NM_015599.3(PGM3):c.-2-166C>G rs755174589
NM_015599.3(PGM3):c.-2-166C>T rs755174589
NM_015599.3(PGM3):c.-2-190T>A rs73749738
NM_015599.3(PGM3):c.-2-208A>G rs1162624008
NM_015599.3(PGM3):c.-2-209C>A rs1438440008
NM_015599.3(PGM3):c.-2-226T>C rs373825865
NM_015599.3(PGM3):c.-2-3T>C
NM_015599.3(PGM3):c.1003A>G (p.Thr335Ala)
NM_015599.3(PGM3):c.1020A>C (p.Glu340Asp)
NM_015599.3(PGM3):c.1020_1022del (p.Glu340_Val341delinsAsp) rs587777416
NM_015599.3(PGM3):c.1030-10T>A
NM_015599.3(PGM3):c.1047T>G (p.Thr349=) rs929818392
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val) rs34238319
NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu) rs774568856
NM_015599.3(PGM3):c.1166A>G (p.Gln389Arg)
NM_015599.3(PGM3):c.1174G>C (p.Glu392Gln) rs149679266
NM_015599.3(PGM3):c.11G>A (p.Gly4Asp)
NM_015599.3(PGM3):c.1204G>A (p.Ala402Thr)
NM_015599.3(PGM3):c.1243-14_1243-3del
NM_015599.3(PGM3):c.1243-15_1243-4del rs773922847
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.1314A>G (p.Gln438=)
NM_015599.3(PGM3):c.1327C>G (p.Leu443Val) rs141509908
NM_015599.3(PGM3):c.1327C>T (p.Leu443Phe) rs141509908
NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg) rs587777565
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) rs201593125
NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs) rs587777414
NM_015599.3(PGM3):c.137C>G (p.Ala46Gly)
NM_015599.3(PGM3):c.181G>T (p.Val61Leu) rs1583298383
NM_015599.3(PGM3):c.219A>G (p.Val73=) rs752657453
NM_015599.3(PGM3):c.248T>C (p.Leu83Ser) rs267608260
NM_015599.3(PGM3):c.325A>T (p.Ile109Phe) rs140499200
NM_015599.3(PGM3):c.335A>G (p.Lys112Arg)
NM_015599.3(PGM3):c.33A>G (p.Ala11=) rs150763574
NM_015599.3(PGM3):c.349C>A (p.Leu117Met) rs190279776
NM_015599.3(PGM3):c.369dup (p.Val124fs)
NM_015599.3(PGM3):c.389+3G>A rs201392846
NM_015599.3(PGM3):c.389+4A>G rs994978040
NM_015599.3(PGM3):c.38A>G (p.His13Arg)
NM_015599.3(PGM3):c.39C>T (p.His13=) rs763886701
NM_015599.3(PGM3):c.404A>G (p.Lys135Arg)
NM_015599.3(PGM3):c.405A>G (p.Lys135=) rs777989465
NM_015599.3(PGM3):c.439C>T (p.Leu147=) rs142142489
NM_015599.3(PGM3):c.450A>G (p.Gln150=) rs755097152
NM_015599.3(PGM3):c.458-7A>G rs771921647
NM_015599.3(PGM3):c.506G>A (p.Arg169Gln)
NM_015599.3(PGM3):c.50A>G (p.Asn17Ser) rs369116726
NM_015599.3(PGM3):c.520C>T (p.Arg174Ter) rs762678772
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.60C>G (p.Ile20Met)
NM_015599.3(PGM3):c.618A>C (p.Arg206Ser) rs148817553
NM_015599.3(PGM3):c.715G>C (p.Asp239His) rs869312886
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015599.3(PGM3):c.737dup (p.Asn246fs) rs587777564
NM_015599.3(PGM3):c.745T>C (p.Cys249Arg)
NM_015599.3(PGM3):c.787+7C>T rs376979392
NM_015599.3(PGM3):c.787+8G>A rs778342353
NM_015599.3(PGM3):c.788-2A>G
NM_015599.3(PGM3):c.788G>C (p.Gly263Ala)
NM_015599.3(PGM3):c.847G>A (p.Val283Ile) rs1339891026
NM_015599.3(PGM3):c.891T>G (p.Asp297Glu) rs587777415
NM_015599.3(PGM3):c.94G>C (p.Ala32Pro)
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510
PGM3, ILE322THR

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.