ClinVar Miner

List of variants in gene LOC130058864, PHKG2 studied for Glycogen storage disease IXc

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000294.2(PHKG2):c.-114T>C rs11863277 0.97872
NM_000294.2(PHKG2):c.-106G>A rs879382458 0.00001
NM_000294.2(PHKG2):c.-118G>A rs1361898035
NM_000294.2(PHKG2):c.-162C>T rs938838075
NM_000294.3(PHKG2):c.-76G>C rs2053281054

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