List of variants in gene MPDU1 reported as pathogenic for MPDU1-congenital disorder of glycosylation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004870.4(MPDU1):c.2T>C (p.Met1Thr)	rs104894588	0.00004
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)	rs104894586	0.00001
NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser)	rs104894589	0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs)	rs756471132	0.00001
NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro)	rs104894587

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