ClinVar Miner

List of variants studied for Glycogen storage disease, type V by Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
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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