ClinVar Miner

List of variants reported as likely benign for ALG3-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463 0.01115
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888 0.00178
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466 0.00102
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_005787.6(ALG3):c.222C>T (p.Tyr74=) rs200875721 0.00056
NM_005787.6(ALG3):c.16C>A (p.Arg6=) rs199587005 0.00039
NM_005787.6(ALG3):c.669C>T (p.Leu223=) rs146607327 0.00034
NM_005787.6(ALG3):c.933-4C>T rs190571910 0.00024
NM_005787.6(ALG3):c.606-8C>T rs368253820 0.00014
NM_005787.6(ALG3):c.1176C>T (p.Ile392=) rs377091766 0.00010
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178 0.00009
NM_005787.6(ALG3):c.1215C>T (p.Ser405=) rs116621135 0.00007
NM_005787.6(ALG3):c.297-6T>C rs371534425 0.00006
NM_005787.6(ALG3):c.312C>T (p.Phe104=) rs767923381 0.00006
NM_005787.6(ALG3):c.549C>T (p.Phe183=) rs780507509 0.00004
NM_005787.6(ALG3):c.642C>T (p.Phe214=) rs545724911 0.00004
NM_005787.6(ALG3):c.1107C>T (p.Pro369=) rs753913644 0.00002
NM_005787.6(ALG3):c.606-10C>T rs372141050 0.00002
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 0.00001
NM_005787.6(ALG3):c.240C>T (p.Gly80=) rs756013928 0.00001
NM_005787.6(ALG3):c.294T>A (p.Leu98=) rs200538695 0.00001
NM_005787.6(ALG3):c.605+9C>T rs1177025121 0.00001
NM_005787.6(ALG3):c.66G>A (p.Lys22=) rs778269575 0.00001
NM_005787.6(ALG3):c.690G>A (p.Gly230=) rs755828168 0.00001
NM_005787.6(ALG3):c.696C>T (p.Leu232=) rs1174962210 0.00001
NM_005787.6(ALG3):c.1009+14T>G
NM_005787.6(ALG3):c.1014C>T (p.Ile338=)
NM_005787.6(ALG3):c.1170G>T (p.Gly390=) rs758528909
NM_005787.6(ALG3):c.1242C>T (p.Ala414=)
NM_005787.6(ALG3):c.1254G>A (p.Leu418=)
NM_005787.6(ALG3):c.18G>A (p.Arg6=) rs1239564678
NM_005787.6(ALG3):c.196+16G>A
NM_005787.6(ALG3):c.196+19del rs1260750286
NM_005787.6(ALG3):c.296+13A>C rs2108442309
NM_005787.6(ALG3):c.296+20T>C
NM_005787.6(ALG3):c.297-11T>C
NM_005787.6(ALG3):c.297-19A>G
NM_005787.6(ALG3):c.30G>C (p.Arg10=)
NM_005787.6(ALG3):c.321C>T (p.Ile107=) rs1436563177
NM_005787.6(ALG3):c.33C>A (p.Ser11=)
NM_005787.6(ALG3):c.445-17C>T
NM_005787.6(ALG3):c.445-19T>C
NM_005787.6(ALG3):c.456C>T (p.Phe152=)
NM_005787.6(ALG3):c.579C>T (p.Arg193=)
NM_005787.6(ALG3):c.606-18C>T
NM_005787.6(ALG3):c.633G>A (p.Val211=) rs2108441361
NM_005787.6(ALG3):c.639C>A (p.Leu213=)
NM_005787.6(ALG3):c.717T>G (p.Ala239=)
NM_005787.6(ALG3):c.888C>T (p.Ala296=)
NM_005787.6(ALG3):c.918C>T (p.Leu306=)
NM_005787.6(ALG3):c.932+10G>A
NM_005787.6(ALG3):c.933-20_933-17del
NM_005787.6(ALG3):c.945T>C (p.Ser315=)

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.