ClinVar Miner

List of variants in gene G6PC1 reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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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.432G>A (p.Pro144=) rs161628 0.02402
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.-77G>A rs145752565 0.00919
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.340+42C>T rs116797100 0.00549
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser) rs201961848 0.00176
NM_000151.4(G6PC1):c.*3G>A rs191399793 0.00088
NM_000151.4(G6PC1):c.562+10G>A rs199505156 0.00087
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847 0.00014
NM_000151.4(G6PC1):c.*1304G>A rs549833149 0.00013
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311 0.00002
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795 0.00001
NM_000151.4(G6PC1):c.*1227dup rs397735497
NM_000151.4(G6PC1):c.*1545TTTTAGAA[1] rs397717945

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