ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type I by Counsyl

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.341_343AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.523+3A>G rs774107741
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly) rs1386173214
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.653dup (p.His218fs) rs1555453241
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_002435.2(MPI):c.1054del (p.Val352Serfs) rs752976348
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1053+6_1053+9del rs1279545559
NM_002435.3(MPI):c.1054-34_1054-11del rs1555479532
NM_002435.3(MPI):c.121G>A (p.Ala41Thr) rs779821212
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter) rs1555479632
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636
NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del) rs1555479384
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
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.471_476del (p.156_157LI[1]) rs1553155569
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303
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.