ClinVar Miner

List of variants in gene GBE1 reported as pathogenic for Glycogen storage disease IV, classic hepatic

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00003
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672

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