ClinVar Miner

List of variants reported as benign for Glycogen storage disease IXc

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000294.2(PHKG2):c.-114T>C rs11863277 0.97872
NM_000294.3(PHKG2):c.271+38C>T rs4889504 0.96355
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser) rs143983247 0.00332
NM_000294.3(PHKG2):c.927+17C>G rs143558058 0.00288
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154 0.00252
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628 0.00240
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513 0.00158
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641 0.00059
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792 0.00038
NM_000294.3(PHKG2):c.21G>A (p.Pro7=) rs200427925 0.00032
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602 0.00018
NM_000294.3(PHKG2):c.802-17C>T rs772388120 0.00003
NM_000294.3(PHKG2):c.647+20del

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