ClinVar Miner

List of variants reported as pathogenic for Glucose-6-phosphate transport defect by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00024
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter) rs902775927 0.00002
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs) rs769726248 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter) rs1444468055 0.00001
NM_001164277.2(SLC37A4):c.1124+1G>T rs782630676 0.00001
NM_001164277.2(SLC37A4):c.149-2A>G rs1441197277 0.00001
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val) rs786204740 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter) rs782313064 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.381+1G>T rs786204637 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val) rs193302879 0.00001
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter) rs1555191101 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NC_000011.10:g.(?_119024900)_(119029379_?)del
NC_000011.10:g.(?_119028174)_(119029389_?)del
NC_000011.9:g.(?_118897293)_(118897825_?)del
NC_000011.9:g.(?_118899922)_(118900089_?)del
NM_001164277.1(SLC37A4):c.529_533del rs2089891548
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs) rs2497012200
NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs) rs2134628172
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs) rs2497011739
NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs) rs2497011562
NM_001164277.2(SLC37A4):c.1124+1G>C rs782630676
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs) rs1943512272
NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs) rs2497010232
NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs) rs2497010200
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter) rs2134626765
NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs) rs2497010101
NM_001164277.2(SLC37A4):c.11del (p.Gln4fs) rs2134644472
NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter) rs2497010017
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter) rs374848317
NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter) rs2497033470
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs) rs2497033380
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter) rs1555191604
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter) rs1943638687
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu) rs2134640168
NM_001164277.2(SLC37A4):c.279del (p.Phe94fs) rs2497032747
NM_001164277.2(SLC37A4):c.294del (p.Thr99fs) rs2497032578
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs) rs2134639714
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.2(SLC37A4):c.370del (p.Val124fs) rs1555191512
NM_001164277.2(SLC37A4):c.381+1G>A rs786204637
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs) rs2134638421
NM_001164277.2(SLC37A4):c.3G>C (p.Met1Ile)
NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter) rs2497029597
NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter) rs2497029561
NM_001164277.2(SLC37A4):c.421del (p.Leu141fs) rs2497029498
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter) rs1943618079
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter) rs1233639372
NM_001164277.2(SLC37A4):c.497_509del (p.Arg166fs) rs2497028783
NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp) rs2134637643
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg) rs193302893
NM_001164277.2(SLC37A4):c.593del (p.Asn198fs) rs2497027852
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs) rs1474282972
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter) rs996440530
NM_001164277.2(SLC37A4):c.686del (p.Leu229fs) rs2497023809
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs) rs781869215
NM_001164277.2(SLC37A4):c.713del (p.Gly238fs) rs2497023568
NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter) rs2134644045
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs) rs2497023156
NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer) rs2497022903
NM_001164277.2(SLC37A4):c.786-3_787del rs2134633858
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs) rs1592111172
NM_001164277.2(SLC37A4):c.818del (p.Gly273fs) rs1592111112
NM_001164277.2(SLC37A4):c.871+1G>T rs1943574435
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs) rs2134631619
NM_001164277.2(SLC37A4):c.927del (p.Gly310fs) rs1943557200
NM_001164277.2(SLC37A4):c.929del (p.Gly310fs) rs1943556915
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs) rs2497017623
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs) rs782172072
NM_001164277.2(SLC37A4):c.958del (p.Arg319_Val320insTer) rs1943554955
NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs) rs2497017391
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs) rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs) rs1001301633
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter) rs782282206

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