ClinVar Miner

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

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Total variants: 94
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HGVS dbSNP
NM_000151.4(G6PC1):c.*1012C>T rs75063448
NM_000151.4(G6PC1):c.*1039G>T rs549474805
NM_000151.4(G6PC1):c.*103C>T
NM_000151.4(G6PC1):c.*119C>T rs886052957
NM_000151.4(G6PC1):c.*120G>A rs150477898
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.*1311G>A
NM_000151.4(G6PC1):c.*1324C>T rs548787621
NM_000151.4(G6PC1):c.*1400G>A
NM_000151.4(G6PC1):c.*1454C>T rs148453821
NM_000151.4(G6PC1):c.*1458C>T
NM_000151.4(G6PC1):c.*1466T>C
NM_000151.4(G6PC1):c.*1513C>T rs374021788
NM_000151.4(G6PC1):c.*1514G>A
NM_000151.4(G6PC1):c.*1527C>T
NM_000151.4(G6PC1):c.*1550G>T
NM_000151.4(G6PC1):c.*1552A>T rs138968865
NM_000151.4(G6PC1):c.*1640G>T
NM_000151.4(G6PC1):c.*1652C>T rs765883953
NM_000151.4(G6PC1):c.*1671C>T
NM_000151.4(G6PC1):c.*17G>A
NM_000151.4(G6PC1):c.*1901A>G
NM_000151.4(G6PC1):c.*1970A>G rs192778595
NM_000151.4(G6PC1):c.*1981C>T rs573802724
NM_000151.4(G6PC1):c.*1986T>C rs542411157
NM_000151.4(G6PC1):c.*2081T>A
NM_000151.4(G6PC1):c.*2088A>T rs9902963
NM_000151.4(G6PC1):c.*2095T>A rs692180
NM_000151.4(G6PC1):c.*211T>C rs886052958
NM_000151.4(G6PC1):c.*2133C>T rs183542930
NM_000151.4(G6PC1):c.*2134G>A rs886052963
NM_000151.4(G6PC1):c.*2184T>A
NM_000151.4(G6PC1):c.*23T>C rs2229611
NM_000151.4(G6PC1):c.*2418G>C
NM_000151.4(G6PC1):c.*2474C>T
NM_000151.4(G6PC1):c.*24A>C rs377739870
NM_000151.4(G6PC1):c.*2501C>G rs886052964
NM_000151.4(G6PC1):c.*250G>A
NM_000151.4(G6PC1):c.*2519G>T rs886052965
NM_000151.4(G6PC1):c.*251C>T
NM_000151.4(G6PC1):c.*2532G>A rs76156285
NM_000151.4(G6PC1):c.*2611C>T rs186556135
NM_000151.4(G6PC1):c.*2723G>A
NM_000151.4(G6PC1):c.*2800G>A rs886052967
NM_000151.4(G6PC1):c.*2847T>C rs139115520
NM_000151.4(G6PC1):c.*2857C>T
NM_000151.4(G6PC1):c.*286A>G rs886052959
NM_000151.4(G6PC1):c.*2975A>T
NM_000151.4(G6PC1):c.*2980A>G
NM_000151.4(G6PC1):c.*2981G>T rs886052968
NM_000151.4(G6PC1):c.*3G>A rs191399793
NM_000151.4(G6PC1):c.*492A>C rs532485841
NM_000151.4(G6PC1):c.*556C>T rs533491939
NM_000151.4(G6PC1):c.*607G>A rs886052960
NM_000151.4(G6PC1):c.*680G>A
NM_000151.4(G6PC1):c.*703G>A rs375295552
NM_000151.4(G6PC1):c.*714A>G rs886052961
NM_000151.4(G6PC1):c.*727T>C rs80193931
NM_000151.4(G6PC1):c.*745G>T rs116897758
NM_000151.4(G6PC1):c.*877T>C rs72826982
NM_000151.4(G6PC1):c.*887T>C
NM_000151.4(G6PC1):c.*986A>T rs370935410
NM_000151.4(G6PC1):c.-45G>A rs367816430
NM_000151.4(G6PC1):c.-77G>A
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn)
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516
NM_000151.4(G6PC1):c.230+11T>C
NM_000151.4(G6PC1):c.231-12G>A
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.553G>A (p.Val185Ile)
NM_000151.4(G6PC1):c.577G>C (p.Glu193Gln) rs886052956
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala)
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val)
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn)
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.922G>A (p.Val308Ile) rs774448424
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258

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