ClinVar Miner

List of variants in gene ALG6 reported as uncertain significance for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser) rs150976885
NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer) rs1553156893
NM_013339.4(ALG6):c.1237_1239GAA[2] (p.Glu415del) rs773295759
NM_013339.4(ALG6):c.1364_1366TGA[1] (p.Met456del) rs1553157427
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs) rs1553157429
NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del) rs1553157450
NM_013339.4(ALG6):c.1473_1475TAT[4] (p.Ile493dup) rs1475726598
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?) rs759636698
NM_013339.4(ALG6):c.189_191del (p.Asn64del) rs1553155267
NM_013339.4(ALG6):c.235_237del (p.His79del) rs1297610094
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_013339.4(ALG6):c.471_476del (p.156_157LI[1]) rs1553155569
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)
NM_013339.4(ALG6):c.781_783AGA[1] (p.Arg262del) rs886548508
NM_013339.4(ALG6):c.988G>T (p.Val330Phe) rs1057518724

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.