List of variants in gene combination ALG1, LOC130058384 reported as likely 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: 5

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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.131G>T (p.Gly44Val)
NM_019109.5(ALG1):c.208+1G>A
NM_019109.5(ALG1):c.208+1G>C	rs1313166263

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