List of variants reported as uncertain significance for MPI-congenital disorder of glycosylation by Counsyl

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		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_002435.3(MPI):c.748G>A (p.Gly250Ser)	rs748090636	0.00010
NM_002435.3(MPI):c.121G>A (p.Ala41Thr)	rs779821212	0.00003
NM_002435.3(MPI):c.1A>G (p.Met1Val)	rs528828174	0.00001
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.1054del	rs752976348
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter)	rs1555479632
NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del)	rs1555479384
NM_002435.3(MPI):c.991del (p.Glu331fs)	rs1555479423

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