ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 470
Download table as spreadsheet
HGVS dbSNP
G6PD:c.1455-13T>C rs2071429
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061
NM_000030.2(AGXT):c.-46G>A rs73106672
NM_000030.3(AGXT):c.*19G>A rs143458283
NM_000030.3(AGXT):c.-24C>G
NM_000030.3(AGXT):c.166-14C>T rs180177176
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.942+12C>G
NM_000035.4(ALDOB):c.*152A>G
NM_000035.4(ALDOB):c.*567C>T rs540272117
NM_000035.4(ALDOB):c.*752C>G rs555999328
NM_000035.4(ALDOB):c.*849T>C rs181650438
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000046.3(ARSB):c.*3195A>G rs16875887
NM_000046.3(ARSB):c.-906C>G rs62377914
NM_000046.3(ARSB):c.-958A>G rs57586329
NM_000046.5(ARSB):c.*2243A>G rs145585943
NM_000046.5(ARSB):c.313-12T>C
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000108.5(DLD):c.*1640A>G
NM_000108.5(DLD):c.*1736T>C rs190655078
NM_000108.5(DLD):c.*1876G>A
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*474T>C
NM_000108.5(DLD):c.*887T>C
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000147.4(FUCA1):c.-86T>G rs2070953
NM_000147.4(FUCA1):c.327G>A (p.Gln109=) rs61996281
NM_000147.4(FUCA1):c.402G>C (p.Leu134Phe) rs143691289
NM_000147.4(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.4(FUCA1):c.648C>T (p.Tyr216=) rs80358198
NM_000151.4(G6PC1):c.*2418G>C
NM_000151.4(G6PC1):c.*2975A>T
NM_000151.4(G6PC1):c.*3G>A rs191399793
NM_000151.4(G6PC1):c.*745G>T rs116897758
NM_000151.4(G6PC1):c.-77G>A
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000152.5(GAA):c.*139dup rs865903736
NM_000152.5(GAA):c.-178G>A rs77514632
NM_000152.5(GAA):c.-260G>C rs2304849
NM_000152.5(GAA):c.-338C>G rs144639114
NM_000152.5(GAA):c.-75C>G
NM_000152.5(GAA):c.1075+13C>T rs41292402
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000154.2(GALK1):c.*32C>T rs116845474
NM_000154.2(GALK1):c.1107+5G>A rs201663491
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171
NM_000155.4(GALT):c.*147A>G rs73501024
NM_000155.4(GALT):c.*148T>C
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000158.4(GBE1):c.*308C>T rs141214861
NM_000158.4(GBE1):c.-101C>T rs886058903
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000162.5(GCK):c.*297T>G rs527259972
NM_000162.5(GCK):c.*356G>A rs146107173
NM_000162.5(GCK):c.*510C>T rs141645300
NM_000162.5(GCK):c.*735C>A rs556996030
NM_000162.5(GCK):c.*847G>A rs76374134
NM_000162.5(GCK):c.*92C>A rs557990162
NM_000162.5(GCK):c.-215A>G
NM_000162.5(GCK):c.-452G>A rs187173652
NM_000162.5(GCK):c.208+11G>A rs77440690
NM_000162.5(GCK):c.209-8G>A rs144798843
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035
NM_000162.5(GCK):c.46-12C>T rs142829768
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000181.3(GUSB):c.-50C>T rs201504866
NM_000181.3(GUSB):c.-72G>T rs2279904
NM_000181.4(GUSB):c.1245-15C>T rs62470935
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000213.5(ITGB4):c.*4C>T rs189610725
NM_000262.3(NAGA):c.*1311T>C
NM_000262.3(NAGA):c.*1930G>A
NM_000262.3(NAGA):c.*555C>T rs141688392
NM_000262.3(NAGA):c.-394A>G
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) rs141557187
NM_000263.3(NAGLU):c.-138A>G rs76407245
NM_000263.3(NAGLU):c.-200G>C rs114904267
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000284.4(PDHA1):c.*1926G>C
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2199-12A>G rs202008060
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559
NM_000290.4(PGAM2):c.596-3T>C rs367994618
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479
NM_000293.3(PHKB):c.*590A>G
NM_000293.3(PHKB):c.*641C>A rs117861728
NM_000293.3(PHKB):c.*915G>A rs151262633
NM_000293.3(PHKB):c.*989A>T
NM_000293.3(PHKB):c.1127-14A>G rs185628131
NM_000293.3(PHKB):c.1797+8C>T rs77462273
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.2278+15C>G rs201402032
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2766-8T>C rs186710481
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000293.3(PHKB):c.710+12A>C
NM_000293.3(PHKB):c.870+10T>A rs144932435
NM_000294.3(PHKG2):c.*2539T>C rs886051919
NM_000294.3(PHKG2):c.*590G>A rs886051916
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641
NM_000294.3(PHKG2):c.96-10G>T rs74015042
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962
NM_000298.6(PKLR):c.375+10G>T
NM_000308.3(CTSA):c.-172A>C rs184484066
NM_000308.3(CTSA):c.-223G>A rs117529875
NM_000308.3(CTSA):c.-43G>T rs116893852
NM_000308.3(CTSA):c.1090G>A (p.Val364Met) rs137941635
NM_000308.3(CTSA):c.159C>T (p.Ile53=) rs150140984
NM_000308.3(CTSA):c.522C>T (p.Ala174=) rs190565374
NM_000308.3(CTSA):c.934G>A (p.Asp312Asn) rs142892564
NM_000308.4(CTSA):c.*51C>G
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776
NM_000340.2(SLC2A2):c.*1059del rs139372968
NM_000340.2(SLC2A2):c.*1260A>G rs573454591
NM_000340.2(SLC2A2):c.*486T>C rs566222124
NM_000340.2(SLC2A2):c.*930_*934del rs140350942
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375
NM_000343.3(SLC5A1):c.-36G>A rs200961861
NM_000343.4(SLC5A1):c.*1203A>G
NM_000343.4(SLC5A1):c.*1237A>G rs368732312
NM_000343.4(SLC5A1):c.*1455C>A rs559383534
NM_000343.4(SLC5A1):c.*1476A>G
NM_000343.4(SLC5A1):c.*423dup rs140860103
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=)
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser) rs61733910
NM_000343.4(SLC5A1):c.373-13G>A rs201398293
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=)
NM_000352.6(ABCC8):c.-19A>G rs193922394
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228
NM_000365.6(TPI1):c.*178G>A rs144171030
NM_000365.6(TPI1):c.*519T>C
NM_000365.6(TPI1):c.*549A>G
NM_000365.6(TPI1):c.-31C>T
NM_000365.6(TPI1):c.116-13A>G
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000404.4(GLB1):c.*184G>A rs143430374
NM_000404.4(GLB1):c.*376C>G rs147437116
NM_000404.4(GLB1):c.-48G>C
NM_000404.4(GLB1):c.1233+8T>C rs13093698
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg) rs183126947
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000434.3(NEU1):c.-76C>G rs566696697
NM_000434.4(NEU1):c.*445T>G rs113824527
NM_000485.2(APRT):c.-50C>A rs8191469
NM_000485.3(APRT):c.*182A>G rs8191498
NM_000485.3(APRT):c.*3A>G rs2070256
NM_000485.3(APRT):c.*47T>C rs8191497
NM_000485.3(APRT):c.90G>T (p.Ser30=) rs8191472
NM_000485.3(APRT):c.97C>T (p.Leu33=) rs8191473
NM_000507.4(FBP1):c.*248del rs11351544
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) rs2297085
NM_000507.4(FBP1):c.826-9G>C rs200948424
NM_000512.4(GALNS):c.-92T>C rs116702472
NM_000512.5(GALNS):c.*224C>G rs111233947
NM_000512.5(GALNS):c.*236C>T rs189375208
NM_000512.5(GALNS):c.*296A>G rs79507351
NM_000512.5(GALNS):c.*524G>C rs3759946
NM_000512.5(GALNS):c.*546C>T rs114447455
NM_000512.5(GALNS):c.-32C>T
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000525.3(KCNJ11):c.*215C>T rs5210
NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.1089A>G (p.Ser363=) rs5214
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_000528.4(MAN2B1):c.*42G>A rs149101136
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081
NM_000528.4(MAN2B1):c.630+12G>C rs368271384
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970
NM_000642.3(AGL):c.*1581G>C
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.2546+10T>C rs74551473
NM_000642.3(AGL):c.3084-8T>C rs186402161
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811
NM_000925.3(PDHB):c.*407_*408delAA rs35161513
NM_000925.4(PDHB):c.*201T>C
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142
NM_001008216.2(GALE):c.*195T>C
NM_001008216.2(GALE):c.-77+241C>G rs566996145
NM_001008216.2(GALE):c.-77+311C>T rs113324056
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796
NM_001008216.2(GALE):c.873+13G>C rs760941
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275
NM_001041.4(SI):c.*314del rs145227457
NM_001041.4(SI):c.2244+14G>A
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.2737-9dup rs747324303
NM_001041.4(SI):c.2887A>C (p.Arg963=) rs113456182
NM_001041.4(SI):c.4026A>G (p.Thr1342=) rs74648160
NM_001041.4(SI):c.4044G>A (p.Thr1348=) rs75253993
NM_001041.4(SI):c.4268-14T>C rs201151548
NM_001041.4(SI):c.483+4C>T rs13086543
NM_001041.4(SI):c.4841+9A>G rs114438312
NM_001041.4(SI):c.598A>G (p.Ser200Gly) rs113903766
NM_001099856.6(IKBKG):c.190-4418T>C rs111827785
NM_001122606.1(LAMP2):c.*192dup rs113549733
NM_001122606.1(LAMP2):c.*620_*622GTT[3] rs199705754
NM_001122606.1(LAMP2):c.1094-1005dup rs373005118
NM_001122606.1(LAMP2):c.1094-549AT[9] rs753399289
NM_001135024.1(PDHX):c.77C>T (p.Pro26Leu) rs555380381
NM_001135239.1(LDHA):c.-152dup rs371317664
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201
NM_001164277.1(SLC37A4):c.-42G>C rs186567090
NM_001166686.2(PFKM):c.206-3523C>A rs41291959
NM_001184705.2(HADH):c.-193G>A rs10017687
NM_001184705.2(HADH):c.-65G>A rs28703310
NM_001287174.2(ABCC8):c.3332+6C>T rs113873225
NM_001331027.1(HADH):c.*818A>G rs17511319
NM_001352514.2(HLCS):c.*1324T>C rs141644229
NM_001352514.2(HLCS):c.*1589_*1592CAAA[2] rs201997019
NM_001352514.2(HLCS):c.*1725A>G rs73398120
NM_001352514.2(HLCS):c.*1744G>A rs117270429
NM_001352514.2(HLCS):c.*19C>T rs137949852
NM_001352514.2(HLCS):c.*2624G>A rs73210780
NM_001352514.2(HLCS):c.*3247A>G rs114061673
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774
NM_001352514.2(HLCS):c.331-7157C>T rs149104163
NM_001360016.2(G6PD):c.*357= rs1050757
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077
NM_001370658.1(BTD):c.-94C>T rs114567021
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_002076.4(GNS):c.*2611dup rs201933913
NM_002076.4(GNS):c.*2751C>T rs137943279
NM_002076.4(GNS):c.*3068_*3069dup rs397946778
NM_002076.4(GNS):c.*599T>A rs151304792
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725
NM_002103.4(GYS1):c.-253delG rs370753423
NM_002103.5(GYS1):c.*256G>A
NM_002103.5(GYS1):c.*421A>G rs181566066
NM_002103.5(GYS1):c.*450G>A rs3745693
NM_002103.5(GYS1):c.*611C>T rs370792196
NM_002103.5(GYS1):c.*725C>T rs1042265
NM_002103.5(GYS1):c.*841A>G rs75797604
NM_002103.5(GYS1):c.*908G>A rs117997270
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451
NM_002103.5(GYS1):c.300+8G>A rs5454
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612
NM_002299.4(LCT):c.*235C>T
NM_002299.4(LCT):c.*429A>C rs77631953
NM_002299.4(LCT):c.*442_*443GT[1] rs140433552
NM_002299.4(LCT):c.1617C>T (p.Thr539=)
NM_002299.4(LCT):c.1650C>G (p.Gly550=) rs35093754
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.3597G>A (p.Ala1199=) rs79326512
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655
NM_002299.4(LCT):c.4777G>A (p.Val1593Met) rs35891837
NM_002299.4(LCT):c.4866+12C>T
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) rs114828879
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088
NM_002300.7(LDHB):c.130-3_130-2del rs200371155
NM_002300.7(LDHB):c.472C>T (p.Arg158Cys) rs532712842
NM_002591.4(PCK1):c.*349_*350AT[4] rs201179319
NM_002591.4(PCK1):c.*408T>G
NM_002591.4(PCK1):c.*51G>C rs6025630
NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg) rs34103538
NM_002591.4(PCK1):c.179T>C (p.Met60Thr) rs28383586
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329
NM_002591.4(PCK1):c.843G>A (p.Ala281=) rs28359546
NM_002591.4(PCK1):c.864C>T (p.Cys288=) rs61760966
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His)
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=) rs782437467
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) rs151279562
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln)
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=)
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His)
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) rs138752449
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135
NM_002863.5(PYGL):c.424+6T>A rs146741789
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980
NM_003041.4(SLC5A2):c.*33C>G
NM_003041.4(SLC5A2):c.*48G>A
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063
NM_003041.4(SLC5A2):c.1665+13G>A
NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=) rs557690622
NM_003051.3(SLC16A1):c.*1281T>G rs184445532
NM_003051.3(SLC16A1):c.*145T>G rs11585690
NM_003051.3(SLC16A1):c.*1624A>G rs140456426
NM_003051.3(SLC16A1):c.*1876G>C rs11811205
NM_003051.3(SLC16A1):c.-249C>G rs60953496
NM_003051.3(SLC16A1):c.1002G>A (p.Ala334=) rs114731222
NM_003051.4(SLC16A1):c.*332T>C
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile) rs536012651
NM_003477.3(PDHX):c.*114A>G rs76663700
NM_003477.3(PDHX):c.*904G>T
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974
NM_005271.5(GLUD1):c.*1282G>C rs181931207
NM_005271.5(GLUD1):c.*1379C>T
NM_005271.5(GLUD1):c.*355T>G rs569595849
NM_005271.5(GLUD1):c.*852A>G rs150260124
NM_005271.5(GLUD1):c.*908T>C rs140942830
NM_005271.5(GLUD1):c.*972G>A rs12980
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417
NM_005327.5(HADH):c.636+13G>A rs17511214
NM_005566.4(LDHA):c.*582C>T rs144317385
NM_005566.4(LDHA):c.-24-10C>G
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005908.4(MANBA):c.*437A>T rs80064803
NM_005908.4(MANBA):c.*521G>A
NM_005908.4(MANBA):c.-58G>A rs548442432
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415
NM_006488.3(KHK):c.*20_*21AC[2] rs370253620
NM_006488.3(KHK):c.*27A>G rs189674797
NM_006488.3(KHK):c.*623G>A
NM_006488.3(KHK):c.189G>A (p.Met63Ile)
NM_006488.3(KHK):c.527G>A (p.Arg176Gln) rs143669793
NM_006488.3(KHK):c.885T>C (p.Asp295=)
NM_006516.2(SLC2A1):c.-242C>T rs561646847
NM_006516.3(SLC2A1):c.125A>C (p.Glu42Ala) rs748082803
NM_006516.3(SLC2A1):c.680-10G>T rs587784394
NM_006516.3(SLC2A1):c.777C>T (p.Ile259=) rs78388808
NM_006755.1(TALDO1):c.*192G>A rs7933290
NM_006755.1(TALDO1):c.-30_-19del rs71464113
NM_012203.2(GRHPR):c.493+9C>T rs41303225
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) rs12002324
NM_012203.2(GRHPR):c.512G>A (p.Arg171His) rs200106110
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700
NM_015957.4(APIP):c.-30T>C
NM_015957.4(APIP):c.57+91G>T
NM_016203.4(PRKAG2):c.*1021del rs11329945
NM_017950.4(CCDC40):c.*265C>T rs74000393
NM_017950.4(CCDC40):c.*654A>C rs2289538
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509
NM_021957.4(GYS2):c.*437dup rs60154469
NM_021957.4(GYS2):c.-219T>G rs184607089
NM_021957.4(GYS2):c.1063-15C>G rs150691568
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001
NM_021957.4(GYS2):c.1767T>C (p.Thr589=) rs147417298
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049
NM_021957.4(GYS2):c.615C>T (p.His205=) rs569279347
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
NM_053013.4(ENO3):c.86-10C>T rs201571802
NM_053013.4(ENO3):c.86-3del rs151153333
NM_138413.4(HOGA1):c.*415T>A
NM_138413.4(HOGA1):c.700+7C>T rs57616820
NM_138413.4(HOGA1):c.701-11_701-8dup rs143018385
NM_144563.3(RPIA):c.*241A>G
NM_144563.3(RPIA):c.*599_*601GTT[1] rs371885783
NM_152419.3(HGSNAT):c.*106G>A
NM_152419.3(HGSNAT):c.*2258A>G rs78930544
NM_152419.3(HGSNAT):c.*2740C>T
NM_152419.3(HGSNAT):c.*2767C>T
NM_152419.3(HGSNAT):c.*2802C>G
NM_152419.3(HGSNAT):c.*3213T>A rs141634395
NM_152419.3(HGSNAT):c.*817C>T
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_153281.1(HYAL1):c.-241C>A rs12631938
NM_184043.2(ALDOA):c.1038C>T (p.Ser346=) rs77290575
NM_198709.3(ARSB):c.-310-12dup rs11424557
NM_198709.3(ARSB):c.-310-98_-310-95del rs151289643
NM_198709.3(ARSB):c.-311+87A>G rs59558132

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