ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type I by Natera, Inc.

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842 0.00039
NM_002435.3(MPI):c.1050G>A (p.Thr350=) rs145431554 0.00026
NM_002435.3(MPI):c.573C>T (p.Ala191=) rs200903491 0.00022
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588 0.00019
NM_000303.3(PMM2):c.*10G>A rs200930493 0.00015
NM_000303.3(PMM2):c.149A>T (p.Glu50Val) rs182336960 0.00012
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met) rs138890428 0.00012
NM_002435.3(MPI):c.662C>G (p.Ser221Cys) rs760911969 0.00010
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_002435.3(MPI):c.167G>A (p.Arg56Gln) rs200452019 0.00009
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.426T>G (p.Ile142Met) rs781610241 0.00006
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln) rs138383066 0.00006
NM_002435.3(MPI):c.1269G>A (p.Leu423=) rs371664469 0.00006
NM_000303.3(PMM2):c.524-5G>A rs373584132 0.00005
NM_000303.3(PMM2):c.738C>G (p.Ser246=) rs373888957 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu) rs147817691 0.00004
NM_013339.4(ALG6):c.881G>A (p.Arg294His) rs772248256 0.00003
NM_000303.3(PMM2):c.680T>C (p.Met227Thr) rs772410793 0.00002
NM_002435.3(MPI):c.739G>A (p.Gly247Ser) rs557366025 0.00002
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp) rs773813007 0.00001
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys) rs1159211374 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000303.3(PMM2):c.545T>A (p.Val182Asp) rs774532663 0.00001
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg) rs781346472 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_002435.3(MPI):c.1122G>C (p.Gln374His) rs753458883 0.00001
NM_002435.3(MPI):c.1156A>T (p.Thr386Ser) rs769768397 0.00001
NM_002435.3(MPI):c.628G>A (p.Val210Met) rs781158335 0.00001
NM_002435.3(MPI):c.746T>C (p.Ile249Thr) rs201676072 0.00001
NM_002435.3(MPI):c.7G>A (p.Ala3Thr) rs770421382 0.00001
NM_002435.3(MPI):c.855G>A (p.Glu285=) rs769504650 0.00001
NM_002435.3(MPI):c.992A>C (p.Glu331Ala) rs1223295146 0.00001
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu) rs201074540 0.00001
NM_013339.4(ALG6):c.302G>A (p.Arg101His) rs760245924 0.00001
NM_013339.4(ALG6):c.37A>C (p.Ile13Leu) rs1407217511 0.00001
NM_013339.4(ALG6):c.574G>A (p.Ala192Thr) rs878890161 0.00001
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg) rs140879997 0.00001
NM_000303.3(PMM2):c.129G>A (p.Val43=) rs777608895
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) rs1596489094
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg) rs2060588870
NM_002435.3(MPI):c.1086G>A (p.Leu362=) rs905233208
NM_002435.3(MPI):c.455G>C (p.Arg152Pro) rs766458792
NM_002435.3(MPI):c.527C>T (p.Ala176Val) rs1256364766
NM_002435.3(MPI):c.670+9A>T rs7495739
NM_002435.3(MPI):c.672G>C (p.Ala224=) rs768186349
NM_002435.3(MPI):c.678C>A (p.Ala226=) rs199972529
NM_002435.3(MPI):c.781A>G (p.Thr261Ala) rs2064816825
NM_002435.3(MPI):c.845-10G>C rs748693066
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser) rs552078516
NM_013339.4(ALG6):c.346+7G>C rs1159085775
NM_013339.4(ALG6):c.634T>G (p.Cys212Gly) rs1644514646

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