ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease, type V by Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)	rs150911354	0.00003
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu)	rs773543072

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