ClinVar Miner

List of variants studied for ALG3-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_001006941.2(ALG3):c.52+255G>A
NM_001006941.2(ALG3):c.52+260G>C rs747569137
NM_005787.6(ALG3):c.*108T>C
NM_005787.6(ALG3):c.*152C>T rs186599528
NM_005787.6(ALG3):c.*50T>G rs706584
NM_005787.6(ALG3):c.*65C>T rs776636517
NM_005787.6(ALG3):c.1015G>A (p.Val339Ile)
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168
NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser) rs1560162116
NM_005787.6(ALG3):c.1077G>A (p.Gln359=)
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267
NM_005787.6(ALG3):c.1146C>T (p.His382=) rs370304622
NM_005787.6(ALG3):c.1156T>C (p.Leu386=) rs761215928
NM_005787.6(ALG3):c.1243G>A (p.Val415Ile)
NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter) rs1560161567
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888
NM_005787.6(ALG3):c.1272G>A (p.Pro424=) rs372724502
NM_005787.6(ALG3):c.163_196+3del rs1560166870
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273
NM_005787.6(ALG3):c.19A>C (p.Lys7Gln) rs775068875
NM_005787.6(ALG3):c.211T>C (p.Trp71Arg) rs119103237
NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys) rs1028791709
NM_005787.6(ALG3):c.222C>T (p.Tyr74=) rs200875721
NM_005787.6(ALG3):c.240C>T (p.Gly80=) rs756013928
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg) rs367679074
NM_005787.6(ALG3):c.296+4A>G rs1560164682
NM_005787.6(ALG3):c.296+7G>A
NM_005787.6(ALG3):c.297-6T>C rs371534425
NM_005787.6(ALG3):c.304G>T (p.Ala102Ser)
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463
NM_005787.6(ALG3):c.347G>T (p.Ser116Ile)
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro) rs370434427
NM_005787.6(ALG3):c.353G>A (p.Gly118Asp) rs28940588
NM_005787.6(ALG3):c.41C>T (p.Ala14Val) rs767695697
NM_005787.6(ALG3):c.469A>G (p.Met157Val)
NM_005787.6(ALG3):c.470T>A (p.Met157Lys) rs119103238
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236
NM_005787.6(ALG3):c.51A>G (p.Ala17=) rs763727038
NM_005787.6(ALG3):c.544C>T (p.Leu182Phe)
NM_005787.6(ALG3):c.578G>A (p.Arg193His) rs550144109
NM_005787.6(ALG3):c.591T>C (p.Gly197=) rs2233464
NM_005787.6(ALG3):c.606-10C>T rs372141050
NM_005787.6(ALG3):c.606-8C>T rs368253820
NM_005787.6(ALG3):c.642C>T (p.Phe214=) rs545724911
NM_005787.6(ALG3):c.669C>T (p.Leu223=) rs146607327
NM_005787.6(ALG3):c.66G>A (p.Lys22=)
NM_005787.6(ALG3):c.696C>T (p.Leu232=)
NM_005787.6(ALG3):c.763A>C (p.Ser255Arg)
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178
NM_005787.6(ALG3):c.778C>T (p.Arg260Cys)
NM_005787.6(ALG3):c.799C>A (p.Gln267Lys) rs528154210
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466
NM_005787.6(ALG3):c.846G>A (p.Ala282=) rs370912574
NM_005787.6(ALG3):c.933-4C>T rs190571910
NM_005787.6(ALG3):c.954G>A (p.Ser318=) rs372494174
NM_005787.6(ALG3):c.971C>G (p.Ser324Cys)
NM_005787.6(ALG3):c.985C>T (p.Pro329Ser) rs751758378

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.