ClinVar Miner

List of variants in gene MPI 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: 15
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HGVS dbSNP
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.1096T>C (p.Ser366Pro) rs1555479551
NM_002435.3(MPI):c.1174C>T (p.Arg392Cys)
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588
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.45G>C (p.Gln15His)
NM_002435.3(MPI):c.61A>G (p.Met21Val)
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636
NM_002435.3(MPI):c.7G>A (p.Ala3Thr) rs770421382
NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del) rs1555479384
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423

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