List of variants in gene combination ALG1, LOC130058384 reported as pathogenic for ALG1-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: 4

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HGVS	dbSNP	gnomAD frequency
NC_000016.10:g.5071998A>G	rs794726944
NM_019109.5(ALG1):c.115del (p.Val39fs)	rs886042130
NM_019109.5(ALG1):c.164dup (p.Leu56fs)
NM_019109.5(ALG1):c.185C>A (p.Ser62Ter)

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