ClinVar Miner

List of variants studied for Glycogen storage disease, type VI by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00613
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875 0.00531
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.*78G>A rs190588867 0.00133
NM_002863.5(PYGL):c.1828-9T>A rs372338710 0.00027
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745 0.00016
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile) rs147863207 0.00011
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser) rs138888959 0.00001

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