List of variants reported as likely pathogenic for MPI-congenital disorder of glycosylation by Invitae

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002435.3(MPI):c.487+2del	rs1057516550	0.00002
NM_002435.3(MPI):c.145-1G>C	rs1057516573	0.00001
NC_000015.9:g.(?_75188483)_(75190081_?)del
NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs)	rs2141208628
NM_002435.3(MPI):c.144+1G>A
NM_002435.3(MPI):c.144+2T>C
NM_002435.3(MPI):c.15_16+5del	rs2141194911
NM_002435.3(MPI):c.16+1G>A
NM_002435.3(MPI):c.844+1G>A	rs1394866894
NM_002435.3(MPI):c.844+2T>G	rs2141206921
NM_002435.3(MPI):c.845-2A>G	rs2064828055
NM_002435.3(MPI):c.845-2del	rs1555479341

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