ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Baylor Genetics

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 426
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_001064.4(TKT):c.541A>G (p.Ile181Val) rs17052920 0.00449
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_018255.4(ELP2):c.2396C>T (p.Ala799Val) rs35629953 0.00409
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser) rs61737098 0.00277
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu) rs61740253 0.00257
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382 0.00221
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) rs147437033 0.00195
NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys) rs145521296 0.00177
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001 0.00173
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn) rs191511427 0.00154
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610 0.00148
NM_001041.4(SI):c.1043C>T (p.Pro348Leu) rs77546399 0.00138
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281 0.00132
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00128
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_004563.4(PCK2):c.1468+2T>C rs148019349 0.00110
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3]) rs755038966 0.00108
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00103
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329 0.00091
NM_006618.5(KDM5B):c.2320A>G (p.Lys774Glu) rs141191327 0.00088
NM_145262.4(GLYCTK):c.384G>C (p.Met128Ile) rs150662353 0.00088
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile) rs143960563 0.00081
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00080
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_014806.5(RUSC2):c.119C>A (p.Thr40Lys) rs146271483 0.00064
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183 0.00062
NM_145262.4(GLYCTK):c.791T>A (p.Val264Glu) rs73088796 0.00059
NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile) rs35094617 0.00058
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val) rs149640294 0.00051
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471 0.00048
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala) rs145464176 0.00048
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu) rs150505248 0.00044
NM_153747.2(PIGC):c.389C>T (p.Thr130Ile) rs146481462 0.00043
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu) rs375754042 0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_032808.7(LINGO1):c.295G>A (p.Glu99Lys) rs150289554 0.00040
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile) rs782644732 0.00039
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val) rs199608903 0.00039
NM_003619.4(PRSS12):c.1238A>G (p.Asp413Gly) rs753349424 0.00039
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg) rs140334007 0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg) rs140140023 0.00037
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln) rs145503551 0.00034
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151 0.00031
NM_153747.2(PIGC):c.308T>C (p.Ile103Thr) rs61747503 0.00031
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_014026.6(DCPS):c.550G>A (p.Ala184Thr) rs147353126 0.00029
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr) rs148453804 0.00026
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val) rs375300224 0.00025
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) rs147182402 0.00024
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln) rs199560759 0.00024
NM_017721.5(CC2D1A):c.2495C>G (p.Ala832Gly) rs187418052 0.00023
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) rs202177461 0.00022
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs) rs560855452 0.00022
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser) rs139040517 0.00021
NM_020066.5(FMN2):c.2200C>T (p.Arg734Trp) rs145706266 0.00020
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_004830.4(MED23):c.235C>T (p.Leu79Phe) rs151031376 0.00019
NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn) rs767667188 0.00019
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333 0.00017
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745 0.00016
NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys) rs369679261 0.00016
NM_014415.4(ZBTB11):c.709G>A (p.Glu237Lys) rs199936012 0.00016
NM_014806.5(RUSC2):c.4078C>T (p.Arg1360Trp) rs200798902 0.00016
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp) rs376617920 0.00015
NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val) rs763210104 0.00014
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser) rs200963473 0.00014
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln) rs376742471 0.00014
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182 0.00013
NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile) rs144575104 0.00013
NM_004563.4(PCK2):c.287G>A (p.Arg96His) rs770940344 0.00013
NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys) rs138928835 0.00012
NM_003477.3(PDHX):c.622C>T (p.Arg208Trp) rs61752927 0.00012
NM_015028.4(TNIK):c.2869A>G (p.Met957Val) rs200347488 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_000343.4(SLC5A1):c.312+3G>A rs200776237 0.00011
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_001080510.5(METTL23):c.20C>T (p.Ala7Val) rs201999820 0.00011
NM_020066.5(FMN2):c.2297G>A (p.Arg766His) rs554313620 0.00011
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) rs149761650 0.00010
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890 0.00010
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr) rs762765901 0.00010
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp) rs201005601 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile) rs146873580 0.00010
NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser) rs56067702 0.00010
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157 0.00009
NM_001080510.5(METTL23):c.250A>G (p.Ile84Val) rs527442928 0.00009
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn) rs573897595 0.00009
NM_005609.4(PYGM):c.-20C>T rs71581796 0.00009
NM_005609.4(PYGM):c.1403+5G>A rs373040789 0.00009
NM_015275.3(WASHC4):c.641A>G (p.Lys214Arg) rs369855750 0.00009
NM_032808.7(LINGO1):c.70C>G (p.Gln24Glu) rs772748227 0.00008
NM_153747.2(PIGC):c.812G>A (p.Arg271His) rs370905635 0.00008
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp) rs367711698 0.00007
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu) rs144681053 0.00007
NM_003597.5(KLF11):c.266C>T (p.Ala89Val) rs766187124 0.00007
NM_003805.5(CRADD):c.497G>A (p.Arg166His) rs746685035 0.00007
NM_138501.6(TECR):c.262G>T (p.Val88Leu) rs753690636 0.00007
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp) rs752958758 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000642.3(AGL):c.188G>A (p.Arg63His) rs199958942 0.00006
NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr) rs772460402 0.00006
NM_003477.3(PDHX):c.970A>G (p.Ile324Val) rs768103465 0.00006
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser) rs375378489 0.00006
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_001543.5(NDST1):c.389G>A (p.Arg130His) rs148227466 0.00005
NM_014806.5(RUSC2):c.3557G>A (p.Arg1186Gln) rs746338510 0.00005
NM_018444.4(PDP1):c.202G>A (p.Gly68Arg) rs374758737 0.00005
NM_020066.5(FMN2):c.2753C>T (p.Ala918Val) rs768693892 0.00005
NM_024298.5(MBOAT7):c.1229T>C (p.Met410Thr) rs556354713 0.00005
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp) rs760502380 0.00004
NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=) rs778368877 0.00004
NM_001543.5(NDST1):c.730C>T (p.Arg244Cys) rs375092472 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_014026.6(DCPS):c.329A>G (p.Asn110Ser) rs375853628 0.00004
NM_014026.6(DCPS):c.386C>T (p.Thr129Met) rs201550193 0.00004
NM_014026.6(DCPS):c.541G>A (p.Asp181Asn) rs772776014 0.00004
NM_014806.5(RUSC2):c.2132G>A (p.Arg711Gln) rs200756109 0.00004
NM_014806.5(RUSC2):c.3908A>G (p.Lys1303Arg) rs761728678 0.00004
NM_017721.5(CC2D1A):c.1442C>T (p.Ala481Val) rs201665162 0.00004
NM_017721.5(CC2D1A):c.1724G>A (p.Arg575His) rs760191095 0.00004
NM_021956.5(GRIK2):c.1138A>T (p.Thr380Ser) rs555425016 0.00004
NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu) rs774928119 0.00004
NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg) rs778564417 0.00004
NM_153747.2(PIGC):c.739A>G (p.Ser247Gly) rs751068367 0.00004
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser) rs150532164 0.00003
NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser) rs771451811 0.00003
NM_001080510.5(METTL23):c.319G>A (p.Glu107Lys) rs778423082 0.00003
NM_001160372.4(TRAPPC9):c.1952C>T (p.Pro651Leu) rs143323381 0.00003
NM_001160372.4(TRAPPC9):c.3137G>A (p.Arg1046Gln) rs545480303 0.00003
NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg) rs368758632 0.00003
NM_006859.4(LIAS):c.877A>G (p.Met293Val) rs943564525 0.00003
NM_014026.6(DCPS):c.704C>T (p.Pro235Leu) rs151074136 0.00003
NM_016219.5(MAN1B1):c.1895G>A (p.Arg632Gln) rs368503703 0.00003
NM_016219.5(MAN1B1):c.302A>G (p.Tyr101Cys) rs748988185 0.00003
NM_024735.5(FBXO31):c.996+4A>G rs765703905 0.00003
NM_024824.5(ZC3H14):c.1280-1856A>G rs538186371 0.00003
NM_145262.4(GLYCTK):c.1036C>G (p.Gln346Glu) rs773672318 0.00003
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr) rs140260331 0.00002
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp) rs530842640 0.00002
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) rs779439947 0.00002
NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys) rs772577036 0.00002
NM_001807.6(CEL):c.1402G>A (p.Ala468Thr) rs777913068 0.00002
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala) rs775775270 0.00002
NM_002299.4(LCT):c.5723G>A (p.Arg1908His) rs577825311 0.00002
NM_003619.4(PRSS12):c.910G>A (p.Val304Ile) rs781361976 0.00002
NM_003754.3(EIF3F):c.908C>T (p.Thr303Ile) rs772380740 0.00002
NM_005908.4(MANBA):c.536A>G (p.Asn179Ser) rs202004084 0.00002
NM_014806.5(RUSC2):c.1568G>A (p.Arg523His) rs753457122 0.00002
NM_014806.5(RUSC2):c.1747C>T (p.Arg583Trp) rs756124282 0.00002
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp) rs781491587 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_018255.4(ELP2):c.2045A>T (p.Lys682Met) rs113810922 0.00002
NM_021956.5(GRIK2):c.2310G>T (p.Met770Ile) rs745663188 0.00002
NM_021956.5(GRIK2):c.662G>A (p.Gly221Asp) rs745990822 0.00002
NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys) rs758805684 0.00002
NM_024298.5(MBOAT7):c.854+8G>A rs751520193 0.00002
NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile) rs753445500 0.00002
NM_031466.8(TRAPPC9):c.-249C>T rs1446002001 0.00002
NM_138501.6(TECR):c.161C>G (p.Pro54Arg) rs772297819 0.00002
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu) rs200881798 0.00002
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000175.5(GPI):c.1498G>A (p.Val500Ile) rs552424309 0.00001
NM_000175.5(GPI):c.640A>G (p.Thr214Ala) rs536683131 0.00001
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys) rs1172702857 0.00001
NM_000188.3(HK1):c.2519C>T (p.Ala840Val) rs373871387 0.00001
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln) rs904118831 0.00001
NM_000284.4(PDHA1):c.292-23A>G rs1057518702 0.00001
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) rs755945768 0.00001
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg) rs768553877 0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893 0.00001
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn) rs767123465 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001040616.3(LINS1):c.1487T>C (p.Leu496Ser) rs576126444 0.00001
NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn) rs1567718073 0.00001
NM_001040716.2(PC):c.1-4C>A rs1313846853 0.00001
NM_001064.4(TKT):c.1540G>A (p.Glu514Lys) rs762983878 0.00001
NM_001160372.4(TRAPPC9):c.1625A>G (p.His542Arg) rs149274458 0.00001
NM_001160372.4(TRAPPC9):c.166C>T (p.Arg56Cys) rs1006238101 0.00001
NM_001543.5(NDST1):c.388C>T (p.Arg130Cys) rs746465319 0.00001
NM_001543.5(NDST1):c.883G>A (p.Val295Met) rs747017483 0.00001
NM_001715.3(BLK):c.677A>C (p.Gln226Pro) rs551088779 0.00001
NM_002076.4(GNS):c.531G>T (p.Lys177Asn) rs1435047831 0.00001
NM_002076.4(GNS):c.980A>G (p.Asn327Ser) rs778927646 0.00001
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met) rs748765779 0.00001
NM_002103.5(GYS1):c.314G>A (p.Arg105His) rs775388088 0.00001
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met) rs782400389 0.00001
NM_002863.5(PYGL):c.298A>G (p.Met100Val) rs1273055538 0.00001
NM_003805.5(CRADD):c.-2A>G rs1431834925 0.00001
NM_003805.5(CRADD):c.-6-7T>C rs756888040 0.00001
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg) rs751590798 0.00001
NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala) rs149824165 0.00001
NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys) rs773661572 0.00001
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val) rs775701916 0.00001
NM_006618.5(KDM5B):c.3592G>A (p.Ala1198Thr) rs549414130 0.00001
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met) rs758756190 0.00001
NM_006765.4(TUSC3):c.308+3A>G rs778993933 0.00001
NM_014026.6(DCPS):c.201+4C>G rs746334180 0.00001
NM_014415.4(ZBTB11):c.1342A>C (p.Ser448Arg) rs760062265 0.00001
NM_014806.5(RUSC2):c.2324C>T (p.Ser775Leu) rs763555777 0.00001
NM_014806.5(RUSC2):c.2614C>T (p.Arg872Trp) rs201335495 0.00001
NM_014806.5(RUSC2):c.2959T>G (p.Ser987Ala) rs145303576 0.00001
NM_014806.5(RUSC2):c.3044G>A (p.Arg1015Gln) rs1041188721 0.00001
NM_015275.3(WASHC4):c.2767A>G (p.Met923Val) rs779313558 0.00001
NM_015275.3(WASHC4):c.443C>G (p.Ser148Cys) rs1880398314 0.00001
NM_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr) rs184782012 0.00001
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=) rs751469511 0.00001
NM_016219.5(MAN1B1):c.1765-20G>C rs1225685090 0.00001
NM_016219.5(MAN1B1):c.1811T>G (p.Leu604Arg) rs776114448 0.00001
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe) rs777270726 0.00001
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys) rs756140103 0.00001
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val) rs529368098 0.00001
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser) rs746894472 0.00001
NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg) rs1414536488 0.00001
NM_018255.4(ELP2):c.918A>T (p.Arg306Ser) rs1389450136 0.00001
NM_020066.5(FMN2):c.2240C>T (p.Ser747Phe) rs776610158 0.00001
NM_020066.5(FMN2):c.4865T>C (p.Ile1622Thr) rs1298917573 0.00001
NM_020066.5(FMN2):c.629A>G (p.Gln210Arg) rs1458799973 0.00001
NM_021956.5(GRIK2):c.1073G>T (p.Arg358Leu) rs560817419 0.00001
NM_024298.5(MBOAT7):c.968C>T (p.Thr323Met) rs139499369 0.00001
NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln) rs772949764 0.00001
NM_000108.5(DLD):c.13A>G (p.Ser5Gly)
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro) rs2032348536
NM_000108.5(DLD):c.217A>C (p.Asn73His) rs796051949
NM_000108.5(DLD):c.656T>C (p.Ile219Thr) rs2032006962
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys) rs886043068
NM_000155.4(GALT):c.278T>C (p.Phe93Ser) rs1821135918
NM_000158.4(GBE1):c.*12T>C
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
NM_000158.4(GBE1):c.232G>A (p.Val78Ile)
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr) rs139035514
NM_000188.3(HK1):c.1871dup (p.Ala625fs) rs754451671
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr) rs894585162
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro) rs2092906031
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile) rs886493431
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val) rs2092905670
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) rs1057518695
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr) rs2063192867
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)
NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)
NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)
NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)
NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)
NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile) rs2053424230
NM_000294.3(PHKG2):c.927+13G>A rs371298131
NM_000343.4(SLC5A1):c.1281G>T (p.Arg427Ser)
NM_000352.6(ABCC8):c.1630+5G>T rs1956364777
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg) rs1910352262
NM_000528.4(MAN2B1):c.2467C>T (p.Arg823Cys) rs746805353
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro) rs750705888
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr) rs149771710
NM_000642.3(AGL):c.1735+5G>A
NM_000642.3(AGL):c.2911A>G (p.Ser971Gly) rs1211367569
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu) rs147977213
NM_000642.3(AGL):c.3639G>C (p.Gln1213His) rs1213904866
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg) rs749118487
NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly) rs1596871384
NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser) rs2037687560
NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln) rs2038477427
NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn) rs2037993710
NM_001040716.2(PC):c.1825+3A>C rs1945555370
NM_001040716.2(PC):c.2492T>C (p.Val831Ala)
NM_001040716.2(PC):c.3496A>G (p.Met1166Val) rs1945302855
NM_001040716.2(PC):c.488-6C>A
NM_001064.4(TKT):c.1136G>A (p.Arg379His)
NM_001064.4(TKT):c.1604T>A (p.Phe535Tyr)
NM_001080510.5(METTL23):c.266T>A (p.Leu89Gln)
NM_001080510.5(METTL23):c.417G>T (p.Trp139Cys) rs2077335572
NM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr) rs138247613
NM_001080510.5(METTL23):c.521G>T (p.Gly174Val) rs1395171597
NM_001136035.4(TRMT1):c.1019+9G>C rs375881785
NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser) rs753225455
NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)
NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp) rs1006351159
NM_001136035.4(TRMT1):c.814A>G (p.Thr272Ala) rs759911177
NM_001160372.4(TRAPPC9):c.101T>G (p.Ile34Ser)
NM_001160372.4(TRAPPC9):c.1310C>A (p.Pro437His) rs1247214249
NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp) rs759330508
NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro) rs1829977055
NM_001358263.1(HK1):c.75+20336T>A rs769395943
NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala) rs1755738807
NM_001715.3(BLK):c.84C>A (p.Val28=) rs1585387563
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp) rs984492184
NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr) rs1555179247
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu) rs1862832629
NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val) rs2058522120
NM_002294.3(LAMP2):c.595C>T (p.Pro199Ser)
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr) rs2054403951
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)
NM_002863.5(PYGL):c.1099G>A (p.Glu367Lys)
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu) rs1472614445
NM_003041.4(SLC5A2):c.776G>A (p.Arg259Gln)
NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser) rs761103069
NM_003619.4(PRSS12):c.2040-1G>C rs780630558
NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro) rs767822958
NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys) rs1724538705
NM_003805.5(CRADD):c.316A>T (p.Ile106Phe) rs199846727
NM_004563.4(PCK2):c.157C>T (p.Arg53Cys) rs201059299
NM_004563.4(PCK2):c.1907G>A (p.Arg636His) rs145739132
NM_004830.4(MED23):c.1078-6T>G
NM_004830.4(MED23):c.1708T>G (p.Leu570Val) rs1775691162
NM_004830.4(MED23):c.2176A>G (p.Asn726Asp) rs1775354988
NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu) rs146599947
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr) rs1845968579
NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp) rs1260261553
NM_005566.4(LDHA):c.476T>A (p.Ile159Asn) rs768761936
NM_005609.4(PYGM):c.1144C>G (p.Pro382Ala)
NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro) rs367655515
NM_005883.3(APC2):c.5772G>C (p.Gln1924His) rs2084082995
NM_005883.3(APC2):c.583C>T (p.Arg195Cys) rs1158412843
NM_005883.3(APC2):c.6111C>T (p.Phe2037=) rs1405418055
NM_005883.3(APC2):c.757C>T (p.Pro253Ser) rs555858661
NM_005883.3(APC2):c.796C>A (p.Pro266Thr) rs146579468
NM_006279.5(ST3GAL3):c.118+39G>T rs766784665
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met) rs796053260
NM_006516.4(SLC2A1):c.1147C>T (p.Pro383Ser) rs1643442833
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile) rs1216296247
NM_006516.4(SLC2A1):c.141A>T (p.Thr47=) rs150863093
NM_006516.4(SLC2A1):c.679+3A>G
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His) rs1411827478
NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser) rs1656013992
NM_006618.5(KDM5B):c.2807A>T (p.Asp936Val) rs1655336497
NM_006721.4(ADK):c.741T>A (p.Phe247Leu) rs786205458
NM_006755.2(TALDO1):c.330-10_330delinsAGA rs796249314
NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter) rs1863010811
NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp) rs1191295540
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly) rs773069554
NM_006895.3(HNMT):c.317C>T (p.Ser106Leu) rs755441595
NM_014026.6(DCPS):c.791G>T (p.Arg264Leu) rs140377449
NM_014415.4(ZBTB11):c.799C>T (p.Leu267Phe) rs1436155983
NM_014806.5(RUSC2):c.380C>T (p.Thr127Ile) rs762004622
NM_014806.5(RUSC2):c.3877C>T (p.Arg1293Cys) rs1563876680
NM_014806.5(RUSC2):c.567C>A (p.His189Gln) rs1030373633
NM_014806.5(RUSC2):c.61C>T (p.His21Tyr) rs1821748484
NM_015028.4(TNIK):c.2724G>T (p.Thr908=) rs377530882
NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu) rs35090763
NM_015275.3(WASHC4):c.971T>C (p.Leu324Ser) rs1881275367
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys) rs1038179177
NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys) rs1017935955
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn) rs929390325
NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala) rs546612497
NM_016302.4(CRBN):c.29C>G (p.Ala10Gly) rs137880766
NM_016302.4(CRBN):c.40A>T (p.Met14Leu) rs753095651
NM_016302.4(CRBN):c.94G>A (p.Glu32Lys)
NM_017721.5(CC2D1A):c.1437C>T (p.Ala479=) rs1971378002
NM_017721.5(CC2D1A):c.1666G>A (p.Asp556Asn) rs1971475798
NM_017721.5(CC2D1A):c.992C>T (p.Thr331Ile) rs781498477
NM_017755.6(NSUN2):c.1594C>G (p.Pro532Ala) rs1736795903
NM_017755.6(NSUN2):c.1639A>G (p.Asn547Asp)
NM_017755.6(NSUN2):c.2032T>G (p.Cys678Gly) rs747908747
NM_017755.6(NSUN2):c.2045G>A (p.Gly682Glu) rs1736492714
NM_017755.6(NSUN2):c.604A>G (p.Met202Val) rs1737468532
NM_017755.6(NSUN2):c.767G>A (p.Arg256Lys) rs1456146368
NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser) rs2090517565
NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile) rs200347646
NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu) rs202165125
NM_020066.5(FMN2):c.884C>T (p.Ser295Phe)
NM_021956.5(GRIK2):c.1095+2T>A
NM_021956.5(GRIK2):c.2625A>T (p.Leu875Phe) rs1356066581
NM_021956.5(GRIK2):c.969G>A (p.Met323Ile) rs1780549634
NM_024298.5(MBOAT7):c.1031+17A>G rs1034934225
NM_024298.5(MBOAT7):c.1031G>A (p.Arg344Gln) rs761899500
NM_024298.5(MBOAT7):c.1196A>C (p.His399Pro) rs2076008543
NM_024298.5(MBOAT7):c.653G>C (p.Arg218Pro) rs185682596
NM_024298.5(MBOAT7):c.847C>G (p.Pro283Ala) rs1055465093
NM_024298.5(MBOAT7):c.849C>G (p.Pro283=) rs767593470
NM_024298.5(MBOAT7):c.937G>T (p.Val313Leu) rs2076188195
NM_024735.5(FBXO31):c.1348G>A (p.Val450Met) rs145589459
NM_024735.5(FBXO31):c.44G>A (p.Gly15Glu) rs1235563636
NM_024735.5(FBXO31):c.638C>A (p.Pro213His) rs1905261526
NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu) rs201527519
NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg) rs747024084
NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala) rs1334582239
NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro) rs1700574769
NM_030805.4(LMAN2L):c.424+11C>T rs2078470068
NM_030805.4(LMAN2L):c.46C>A (p.Arg16=) rs1028008100
NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val) rs2077918865
NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn) rs1471676178
NM_032808.7(LINGO1):c.1406A>G (p.Lys469Arg) rs868551107
NM_145262.4(GLYCTK):c.550C>T (p.Pro184Ser) rs1379123977
NM_152419.3(HGSNAT):c.1457G>T (p.Gly486Val) rs1804622640
NM_152419.3(HGSNAT):c.1856G>C (p.Trp619Ser) rs1563388121
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)

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