ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000012.12:g.21560474del
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419

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