ClinVar Miner

List of variants in gene MPI studied 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: 51
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HGVS dbSNP
MPI, 1-BP INS, 166C
NM_002435.2(MPI):c.1054del (p.Val352Serfs) rs752976348
NM_002435.3(MPI):c.-1_3del (p.Met1fs) rs1555478015
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.1096T>C (p.Ser366Pro) rs1555479551
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741
NM_002435.3(MPI):c.1174C>T (p.Arg392Cys)
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588
NM_002435.3(MPI):c.1205A>G (p.Glu402Gly) rs863225086
NM_002435.3(MPI):c.120del (p.Ile40fs) rs1057516466
NM_002435.3(MPI):c.121G>A (p.Ala41Thr) rs779821212
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter) rs1555479632
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752
NM_002435.3(MPI):c.145-1G>A rs1057516573
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.1A>G (p.Met1Val) rs528828174
NM_002435.3(MPI):c.214A>C (p.Ser72Arg)
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494
NM_002435.3(MPI):c.345+15G>A rs11638130
NM_002435.3(MPI):c.345+16C>T rs143242949
NM_002435.3(MPI):c.345+1G>A rs1555478333
NM_002435.3(MPI):c.345+26G>A rs144839533
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.45G>C (p.Gln15His)
NM_002435.3(MPI):c.487+2del rs1057516550
NM_002435.3(MPI):c.488-1G>A rs759579169
NM_002435.3(MPI):c.488-1G>C rs759579169
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer) rs1555478582
NM_002435.3(MPI):c.61A>G (p.Met21Val)
NM_002435.3(MPI):c.629del (p.Val210fs) rs1555478606
NM_002435.3(MPI):c.652A>T (p.Lys218Ter) rs1057516424
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.740del (p.Gly247fs) rs1057517115
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159
NM_002435.3(MPI):c.7G>A (p.Ala3Thr) rs770421382
NM_002435.3(MPI):c.802_803del (p.Met268fs) rs1555479227
NM_002435.3(MPI):c.844+1G>A rs1394866894
NM_002435.3(MPI):c.845-2del rs1555479341
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906
NM_002435.3(MPI):c.89_113del (p.Leu30fs) rs1555478118
NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del) rs1555479384
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423

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