ClinVar Miner

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

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ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.*1454C>T rs148453821 0.00598
NM_000151.4(G6PC1):c.*2184T>A rs146025743 0.00450
NM_000151.4(G6PC1):c.-45G>A rs367816430 0.00137
NM_000151.4(G6PC1):c.*120G>A rs150477898 0.00126
NM_000151.4(G6PC1):c.*986A>T rs370935410 0.00124
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_000151.4(G6PC1):c.*1039G>T rs549474805 0.00089
NM_000151.4(G6PC1):c.*1400G>A rs113536060 0.00087
NM_000151.4(G6PC1):c.*2800G>A rs886052967 0.00079
NM_000151.4(G6PC1):c.*1986T>C rs542411157 0.00053
NM_000151.4(G6PC1):c.*1981C>T rs573802724 0.00034
NM_000151.4(G6PC1):c.*24A>C rs377739870 0.00034
NM_000151.4(G6PC1):c.*556C>T rs533491939 0.00034
NM_000151.4(G6PC1):c.*1970A>G rs192778595 0.00026
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218 0.00021
NM_000151.4(G6PC1):c.*17G>A rs34537381 0.00019
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000 0.00019
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486 0.00019
NM_000151.4(G6PC1):c.*2133C>T rs183542930 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000151.4(G6PC1):c.*1652C>T rs765883953 0.00010
NM_000151.4(G6PC1):c.*1324C>T rs548787621 0.00009
NM_000151.4(G6PC1):c.*680G>A rs973632286 0.00007
NM_000151.4(G6PC1):c.*119C>T rs886052957 0.00006
NM_000151.4(G6PC1):c.*607G>A rs886052960 0.00006
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516 0.00006
NM_000151.4(G6PC1):c.*103C>T rs1032152255 0.00005
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn) rs750711451 0.00005
NM_000151.4(G6PC1):c.*1513C>T rs374021788 0.00004
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258 0.00003
NM_000151.4(G6PC1):c.*1311G>A rs1395262885 0.00002
NM_000151.4(G6PC1):c.553G>A (p.Val185Ile) rs766230068 0.00002
NM_000151.4(G6PC1):c.922G>A (p.Val308Ile) rs774448424 0.00002
NM_000151.4(G6PC1):c.*1671C>T rs568149292 0.00001
NM_000151.4(G6PC1):c.*211T>C rs886052958 0.00001
NM_000151.4(G6PC1):c.*2134G>A rs886052963 0.00001
NM_000151.4(G6PC1):c.*2847T>C rs139115520 0.00001
NM_000151.4(G6PC1):c.*2981G>T rs886052968 0.00001
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877 0.00001
NM_000151.4(G6PC1):c.231-12G>A rs373908549 0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955 0.00001
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748 0.00001
NM_000151.4(G6PC1):c.*1458C>T rs2056105397
NM_000151.4(G6PC1):c.*1466T>C rs2056105442
NM_000151.4(G6PC1):c.*1514G>A rs111309126
NM_000151.4(G6PC1):c.*1527C>T rs966575521
NM_000151.4(G6PC1):c.*1550G>T rs1324359967
NM_000151.4(G6PC1):c.*1552A>T rs138968865
NM_000151.4(G6PC1):c.*1640G>T rs556943624
NM_000151.4(G6PC1):c.*1901A>G rs2056108046
NM_000151.4(G6PC1):c.*2081T>A rs2056108904
NM_000151.4(G6PC1):c.*2501C>G rs886052964
NM_000151.4(G6PC1):c.*2519G>T rs886052965
NM_000151.4(G6PC1):c.*251C>T rs753206089
NM_000151.4(G6PC1):c.*2611C>T rs186556135
NM_000151.4(G6PC1):c.*2857C>T rs2056113291
NM_000151.4(G6PC1):c.*286A>G rs886052959
NM_000151.4(G6PC1):c.*2980A>G rs2056113916
NM_000151.4(G6PC1):c.*492A>C rs532485841
NM_000151.4(G6PC1):c.*703G>A rs375295552
NM_000151.4(G6PC1):c.*714A>G rs886052961
NM_000151.4(G6PC1):c.*887T>C rs2056101326
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn) rs746978011
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile) rs145749644
NM_000151.4(G6PC1):c.230+11T>C rs756151664
NM_000151.4(G6PC1):c.577G>C (p.Glu193Gln) rs886052956
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala) rs1597991619
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258

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