ClinVar Miner

List of variants studied for ALG1-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter) rs1372794201 0.00001

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