ClinVar Miner

List of variants in gene G6PC1 reported as benign for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

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Gene type:
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Total variants: 22
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NM_000151.4(G6PC1):c.*1012C>T rs75063448
NM_000151.4(G6PC1):c.*1210C>G rs144568330
NM_000151.4(G6PC1):c.*1294C>A rs161620
NM_000151.4(G6PC1):c.*1304G>A rs549833149
NM_000151.4(G6PC1):c.*2088A>T rs9902963
NM_000151.4(G6PC1):c.*2095T>A rs692180
NM_000151.4(G6PC1):c.*23T>C rs2229611
NM_000151.4(G6PC1):c.*2532G>A rs76156285
NM_000151.4(G6PC1):c.*727T>C rs80193931
NM_000151.4(G6PC1):c.*877T>C rs72826982
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.562+10G>A rs199505156
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847

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