ClinVar Miner

List of variants studied for carbohydrate metabolism disease by GeneReviews

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 291
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458 0.85807
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000155.4(GALT):c.378-27G>C rs41274865 0.04615
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_000155.4(GALT):c.507+62G>A rs2277202 0.04610
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865 0.03592
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337 0.00017
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001739.2(CA5A):c.555G>A (p.Lys185=) rs147623570 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637 0.00009
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_002863.5(PYGL):c.1620+1G>A rs113993981 0.00006
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973 0.00005
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) rs113993984 0.00003
NM_002863.5(PYGL):c.2461T>C (p.Tyr821His) rs113993988 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530 0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) rs137853861 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_002863.5(PYGL):c.1366G>A (p.Val456Met) rs113993979 0.00002
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) rs113993980 0.00002
NM_002863.5(PYGL):c.1768+1G>A rs113993982 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176 0.00001
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) rs1353058781 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe) rs398123433 0.00001
NM_000512.5(GALNS):c.898+1G>C rs761850746 0.00001
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro) rs587777316 0.00001
NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter) rs113993978 0.00001
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu) rs113993986 0.00001
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975 0.00001
NM_005609.4(PYGM):c.1289C>T (p.Ser430Leu) rs1212604 0.00001
NM_005609.4(PYGM):c.1365C>T (p.Gly455=) rs1056780 0.00001
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter) rs121908528
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.2483_2646+1del rs1555603048
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.3(GALT):c.[652C>T;c.940A>G]
NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) rs137852890
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) rs193929374
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) rs193929373
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg) rs387906504
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000207.2(INS):c.(?_-191)_(187_?)+1del
NM_000207.2(INS):c.-152C>A rs748749585
NM_000207.2(INS):c.-187_-164del rs1135401727
NM_000207.3(INS):c.*59A>G rs397515519
NM_000207.3(INS):c.-152C>G rs748749585
NM_000207.3(INS):c.-39A>C rs1554921033
NM_000207.3(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.3(INS):c.140G>T (p.Gly47Val) rs80356667
NM_000207.3(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.3(INS):c.268G>T (p.Gly90Cys) rs80356670
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.3(INS):c.323A>G (p.Tyr108Cys) rs80356672
NM_000207.3(INS):c.3G>A (p.Met1Ile) rs397515521
NM_000207.3(INS):c.3G>T (p.Met1Ile) rs397515521
NM_000207.3(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000207.3(INS):c.94G>C (p.Gly32Arg) rs80356664
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) rs387906777
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp) rs370523900
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala) rs193929360
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val) rs80356637
NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro) rs193929364
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) rs80356653
NM_000352.6(ABCC8):c.627C>A (p.Asp209Glu) rs80356640
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys) rs193929366
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) rs1048095
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg) rs1567509070
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter) rs1967945316
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435
NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp) rs193929358
NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu) rs193929333
NM_000525.4(KCNJ11):c.103T>G (p.Phe35Val) rs193929333
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) rs80356610
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) rs80356611
NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg) rs193929337
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp) rs80356615
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly) rs80356617
NM_000525.4(KCNJ11):c.497G>A (p.Cys166Tyr) rs80356618
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe) rs80356618
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu) rs80356620
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg) rs80356621
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) rs80356622
NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val) rs193929348
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.602G>T (p.Arg201Leu) rs80356624
NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala) rs193929352
NM_000525.4(KCNJ11):c.886A>C (p.Ile296Leu) rs193929353
NM_000525.4(KCNJ11):c.886A>G (p.Ile296Val) rs193929353
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) rs193929355
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile) rs193929357
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala) rs387906778
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.271_282del (p.Ala91_Leu94del) rs797044841
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser) rs1555603968
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp) rs104894579
NM_000891.3(KCNJ2):c.966G>C (p.Trp322Cys) rs797044842
NM_001358263.1(HK1):c.-290G>C rs797044964
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001739.2(CA5A):c.619-3421_774+502del
NM_002863.3(PYGL):c.[1964_1969invAAAAAG;1969+1_+4delGTAC]
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) rs113993976
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) rs113993977
NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile) rs113993983
NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr) rs113993985
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro) rs113993972
NM_002863.5(PYGL):c.529-1G>C rs113993974
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.564C>A (p.Asn188Lys) rs604595
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.377G>T (p.Arg126Leu) rs80359816
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) rs80359822
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.3435-1G>A rs281865037
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) rs1372286994
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) rs370717845
NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg) rs1803654249
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
c.[708G>C]+[784C>T]
c.[c.38dupA]+[1571G>A]

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