ClinVar Miner

List of variants reported as likely pathogenic for Congenital disorder of glycosylation type 1B

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Total variants: 20
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HGVS dbSNP
NM_002435.3(MPI):c.-1_3del (p.Met1fs) rs1555478015
NM_002435.3(MPI):c.120del (p.Ile40fs) rs1057516466
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.345+1G>A rs1555478333
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.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.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.740del (p.Gly247fs) rs1057517115
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.89_113del (p.Leu30fs) rs1555478118

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