List of variants reported as likely pathogenic for congenital disorder of glycosylation type I by Natera, Inc.

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

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)	rs746610168	0.00004
NM_000303.3(PMM2):c.640-15479C>T	rs1258107584	0.00004
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)	rs369326210	0.00003
NM_013339.4(ALG6):c.902+1G>A	rs1036516188	0.00003
NM_000303.3(PMM2):c.178+1G>A	rs935962174	0.00002
NM_002435.3(MPI):c.487+2del	rs1057516550	0.00002
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)	rs78290141	0.00001
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)	rs769648248
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter)	rs1202400777
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)	rs558826439
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)	rs148759949
NM_002435.3(MPI):c.1087del (p.Ala363fs)	rs2141209567
NM_013339.4(ALG6):c.634dup (p.Cys212fs)	rs879133727
NM_013339.4(ALG6):c.82_82+8del	rs1424742651

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