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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
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_002435.3(MPI):c.662C>G (p.Ser221Cys)	rs760911969	0.00010
NM_002435.3(MPI):c.167G>A (p.Arg56Gln)	rs200452019	0.00009
NM_002435.3(MPI):c.1269G>A (p.Leu423=)	rs371664469	0.00006
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu)	rs147817691	0.00004
NM_002435.3(MPI):c.739G>A (p.Gly247Ser)	rs557366025	0.00002
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_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

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