ClinVar Miner

List of variants reported as pathogenic for ALG1-congenital disorder of glycosylation by Revvity Omics, Revvity

Included ClinVar conditions (1):

ALG1-congenital disorder of glycosylation

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	rs28939378	0.00036
NM_019109.5(ALG1):c.1073-2A>G	rs1957033825
NM_019109.5(ALG1):c.791_804del (p.Asp264fs)	rs2142715856

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