ClinVar Miner

List of variants reported as benign for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Illumina Laboratory Services, Illumina

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.*1294C>A rs161620 0.81032
NM_000151.4(G6PC1):c.*2095T>A rs692180 0.74089
NM_000151.4(G6PC1):c.*23T>C rs2229611 0.73413
NM_000151.4(G6PC1):c.*2088A>T rs9902963 0.69330
NM_000151.4(G6PC1):c.*877T>C rs72826982 0.03829
NM_000151.4(G6PC1):c.*727T>C rs80193931 0.02511
NM_000151.4(G6PC1):c.*1012C>T rs75063448 0.01164
NM_000151.4(G6PC1):c.*1210C>G rs144568330 0.00921
NM_000151.4(G6PC1):c.*250G>A rs143802152 0.00850
NM_000151.4(G6PC1):c.*2723G>A rs146698137 0.00848
NM_000151.4(G6PC1):c.*2474C>T rs143133684 0.00732
NM_000151.4(G6PC1):c.*2532G>A rs76156285 0.00628
NM_000151.4(G6PC1):c.*1304G>A rs549833149 0.00013

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