ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
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.*1311G>A
NM_000151.4(G6PC1):c.*1313A>G rs886052962
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.*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.*2311C>T rs372226654
NM_000151.4(G6PC1):c.*24A>C rs377739870
NM_000151.4(G6PC1):c.*2501C>G rs886052964
NM_000151.4(G6PC1):c.*2519G>T rs886052965
NM_000151.4(G6PC1):c.*251C>T
NM_000151.4(G6PC1):c.*2611C>T rs186556135
NM_000151.4(G6PC1):c.*2687del rs113390675
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.*2980A>G
NM_000151.4(G6PC1):c.*2981G>T rs886052968
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.*887T>C
NM_000151.4(G6PC1):c.*986A>T rs370935410
NM_000151.4(G6PC1):c.-45G>A rs367816430
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu)
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) rs1555560204
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn)
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter) rs1555560217
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro) rs369472089
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
NM_000151.4(G6PC1):c.230+11T>C
NM_000151.4(G6PC1):c.231-12G>A
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg)
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.340+7G>A
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu) rs544563908
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
NM_000151.4(G6PC1):c.361A>G (p.Met121Val) rs1555559733
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)
NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile)
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
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.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu)
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del) rs1305819623
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
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.888C>G (p.Leu296=) rs1266860369
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469
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.964T>G (p.Phe322Val) rs1567706564
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258

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