ClinVar Miner

List of variants studied for glycogen storage disease VI by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
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Total variants: 10
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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.1621-6T>C rs74539788 0.01217
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563 0.00878
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_002863.5(PYGL):c.30G>A (p.Lys10=) rs140912135 0.00046
NM_002863.5(PYGL):c.-31GCAGCCCGCCGC[1] rs561479231
NM_002863.5(PYGL):c.1970-7C>G

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