ClinVar Miner

List of variants reported as likely benign for Glycogen storage disease, type VI by Illumina Laboratory Services, Illumina

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351 0.00262
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245

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