ClinVar Miner

List of variants reported for Glycogen storage disease type III by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377

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