ClinVar Miner

List of variants studied for Glycogen storage disease, type VI by Revvity Omics, Revvity

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) rs150547274 0.00005
NM_002863.5(PYGL):c.1620+1G>C rs113993981
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)
NM_002863.5(PYGL):c.2446C>T (p.Arg816Ter)
NM_002863.5(PYGL):c.361G>T (p.Glu121Ter)

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