ClinVar Miner

List of variants studied for carbohydrate metabolism disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 319
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.2040+20A>G rs2304836 0.72004
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_001365304.2(LOC112694756):c.*1508+17G>T rs2071390 0.13976
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200 0.09809
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000152.5(GAA):c.1754+12G>A rs2304840 0.06396
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
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_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595 0.04510
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02790
NM_053013.4(ENO3):c.1236-17C>T rs77614413 0.02756
NM_053013.4(ENO3):c.240+17G>A rs75279666 0.02755
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr) rs77696629 0.02562
NM_021957.4(GYS2):c.2067C>T (p.His689=) rs7954038 0.02548
NM_021957.4(GYS2):c.1464A>G (p.Leu488=) rs35403985 0.02543
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu) rs16924002 0.02117
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_000289.6(PFKM):c.1500+32C>T rs41291967 0.02028
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106 0.01781
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787 0.01778
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779 0.01749
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_001807.6(CEL):c.353T>G (p.Leu118Arg) rs113056079 0.01720
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_053013.4(ENO3):c.1235+3A>G rs73973669 0.01622
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala) rs61733199 0.01511
NM_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01510
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_002103.5(GYS1):c.693G>A (p.Lys231=) rs5460 0.01434
NM_002294.3(LAMP2):c.*2746A>G rs3827478 0.01396
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933 0.01382
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_002103.5(GYS1):c.420A>G (p.Gly140=) rs5458 0.01301
NM_002863.5(PYGL):c.1621-6T>C rs74539788 0.01217
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745 0.01182
NM_012096.3(APPL1):c.69A>G (p.Leu23=) rs11544592 0.01160
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_012096.3(APPL1):c.1002C>G (p.Asp334Glu) rs61735096 0.01069
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_053013.4(ENO3):c.994G>A (p.Val332Ile) rs61735456 0.00983
NM_031229.4(RBCK1):c.757-15G>C rs200457271 0.00970
NM_000293.3(PHKB):c.870+17T>C rs75918606 0.00923
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563 0.00878
NM_006721.4(ADK):c.195-18A>G rs144492760 0.00844
NM_001365304.2(LOC112694756):c.*889-16C>A rs78124282 0.00797
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_002103.5(GYS1):c.1545A>G (p.Thr515=) rs5448 0.00719
NM_003477.3(PDHX):c.957G>A (p.Leu319=) rs36047324 0.00717
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_001715.3(BLK):c.472+12G>A rs145058498 0.00652
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_021957.4(GYS2):c.1872A>G (p.Glu624=) rs142883971 0.00562
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602 0.00452
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942 0.00407
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_002637.4(PHKA1):c.492C>T (p.Phe164=) rs149354112 0.00383
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg) rs1800202 0.00329
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_001715.3(BLK):c.674C>T (p.Pro225Leu) rs144592409 0.00230
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001365304.2(LOC112694756):c.*621+4C>T rs200278984 0.00204
NM_000175.5(GPI):c.907A>C (p.Met303Leu) rs143733383 0.00202
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr) rs781949460 0.00200
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000289.6(PFKM):c.1500+29C>T rs138256599 0.00183
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_000291.4(PGK1):c.171G>A (p.Ser57=) rs78165041 0.00145
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00140
NM_001184722.1(GPI):c.7G>A (p.Ala3Thr) rs549433538 0.00139
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_000175.5(GPI):c.987C>T (p.Asn329=) rs140676743 0.00123
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp) rs183087139 0.00076
NM_001807.6(CEL):c.554G>A (p.Arg185Gln) rs141665160 0.00076
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849 0.00067
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232 0.00057
NM_001370658.1(BTD):c.252T>C (p.Asp84=) rs138545268 0.00056
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_002863.5(PYGL):c.30G>A (p.Lys10=) rs140912135 0.00046
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met) rs199644216 0.00043
NM_000152.5(GAA):c.1754+11C>T rs371644603 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) rs550455609 0.00032
NM_000175.5(GPI):c.317G>A (p.Arg106Gln) rs143827313 0.00029
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854 0.00029
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480 0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_000175.5(GPI):c.1497C>T (p.Phe499=) rs138799755 0.00023
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535 0.00021
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) rs150405056 0.00020
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000365.6(TPI1):c.116-12T>C rs369077745 0.00019
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011 0.00019
NM_000175.5(GPI):c.1270-9G>A rs191051353 0.00018
NM_002103.5(GYS1):c.1512C>T (p.Val504=) rs201028159 0.00018
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) rs141550921 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_000365.6(TPI1):c.-11G>A rs199634350 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000289.6(PFKM):c.1501-15C>T rs756212415 0.00008
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe) rs782668224 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000175.5(GPI):c.1325C>T (p.Thr442Met) rs758328180 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000289.6(PFKM):c.1212T>C (p.Ala404=) rs1203272613 0.00005
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys) rs758132799 0.00004
NM_000175.5(GPI):c.286C>T (p.Arg96Ter) rs781245249 0.00004
NM_000289.6(PFKM):c.1063-18G>A rs531023136 0.00004
NM_000365.6(TPI1):c.690C>T (p.Phe230=) rs782267337 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_005609.4(PYGM):c.1353C>T (p.His451=) rs377599118 0.00004
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000175.5(GPI):c.-9A>G rs552574934 0.00003
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00003
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) rs782119990 0.00003
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000155.4(GALT):c.233C>T (p.Ala78Val) rs981018740 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys) rs768097543 0.00002
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.547-41G>C rs753870549 0.00001
NM_000155.4(GALT):c.241G>C (p.Ala81Pro) rs111033665 0.00001
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser) rs111033755 0.00001
NM_000155.4(GALT):c.753C>T (p.Tyr251=) rs367543261 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr) rs373055147 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NM_000291.4(PGK1):c.320C>T (p.Ala107Val) rs1569550806 0.00001
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg) rs1187663822 0.00001
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys) rs199852002 0.00001
NM_001354741.2(PFKM):c.-81+1955A>G rs755094329 0.00001
NM_001370658.1(BTD):c.1473G>C (p.Gln491His) rs764375610 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1649G>T (p.Gly550Val) rs2039246464
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.133T>C (p.Ser45Pro) rs2132341560
NM_000155.4(GALT):c.290A>T (p.Asn97Ile) rs111033669
NM_000155.4(GALT):c.291C>T (p.Asn97=) rs398123180
NM_000155.4(GALT):c.302C>G (p.Ala101Gly)
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.584T>G (p.Leu195Arg) rs111033728
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1063-13G>C
NM_000175.5(GPI):c.1143G>C (p.Gly381=) rs1214297048
NM_000175.5(GPI):c.1144G>T (p.Glu382Ter) rs2074944986
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
NM_000175.5(GPI):c.487-14A>G
NM_000175.5(GPI):c.603C>G (p.Pro201=) rs1062480
NM_000175.5(GPI):c.751-5del rs375313737
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro) rs1203659685
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) rs374824469
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg) rs1950977797
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
NM_000291.4(PGK1):c.1152C>T (p.Asn384=)
NM_000291.4(PGK1):c.417+13A>T
NM_000291.4(PGK1):c.461T>C (p.Leu154Pro) rs1557247556
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000365.6(TPI1):c.-29C>G rs181882616
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr) rs199881593
NM_000365.6(TPI1):c.457+7C>G
NM_000507.4(FBP1):c.651_653delinsTAA (p.Arg218Lys)
NM_001160372.4(TRAPPC9):c.1380G>T (p.Gln460His)
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) rs1596813728
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001354741.2(PFKM):c.-81+1966C>T
NM_001365304.2(LOC112694756):c.*1509-16C>T
NM_001365304.2(LOC112694756):c.*833+17C>G rs78209292
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001715.3(BLK):c.1393T>C (p.Tyr465His)
NM_001715.3(BLK):c.391C>A (p.Arg131=) rs73663163
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.772+17G>A
NM_001715.3(BLK):c.922A>G (p.Ile308Val)
NM_001807.6(CEL):c.203A>T (p.His68Leu)
NM_001807.6(CEL):c.526G>A (p.Ala176Thr)
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002863.5(PYGL):c.-31GCAGCCCGCCGC[1] rs561479231
NM_002863.5(PYGL):c.1970-7C>G
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_012096.3(APPL1):c.374-9C>T
NM_012096.3(APPL1):c.824G>A (p.Arg275Gln)
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_017721.5(CC2D1A):c.2405C>T (p.Thr802Met)
NM_053013.4(ENO3):c.789G>A (p.Ser263=) rs75748087

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