ClinVar Miner

List of variants studied for ALG6-congenital disorder of glycosylation 1C by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065

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