ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by Genome-Nilou Lab

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_138413.4(HOGA1):c.212-21A>G rs11817730 0.19877
NM_000154.2(GALK1):c.1108-40C>T rs743554 0.16712
NM_138413.4(HOGA1):c.700+67G>A rs2297643 0.16278
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000642.3(AGL):c.1612-24C>A rs115666491 0.01263
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136 0.00296
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00160
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser) rs138134718 0.00159
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00139
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) rs138105395 0.00125
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00123
NM_000035.4(ALDOB):c.*12C>T rs201867948 0.00118
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00053
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143 0.00051
NM_000642.3(AGL):c.3822C>T (p.Ile1274=) rs143885684 0.00049
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721 0.00046
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924 0.00038
NM_000642.3(AGL):c.2088C>T (p.Ser696=) rs144491501 0.00034
NM_000642.3(AGL):c.3589-19C>T rs368244330 0.00034
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_000642.3(AGL):c.2219A>G (p.His740Arg) rs562215810 0.00025
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716 0.00022
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758 0.00020
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810 0.00017
NM_006516.4(SLC2A1):c.972+17T>A rs202140308 0.00017
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000642.3(AGL):c.3700+14A>G rs368141566 0.00016
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308 0.00016
NM_006516.4(SLC2A1):c.276-11C>T rs376422395 0.00016
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=) rs144685583 0.00016
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00014
NM_000642.3(AGL):c.846+14G>A rs376827010 0.00014
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972 0.00012
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958 0.00012
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283 0.00012
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386 0.00011
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428 0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848 0.00010
NM_000642.3(AGL):c.1284-4A>G rs372612377 0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115 0.00009
NM_000152.5(GAA):c.297C>T (p.Thr99=) rs771846178 0.00009
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658 0.00009
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649 0.00009
NM_000642.3(AGL):c.3696C>T (p.Asp1232=) rs143076729 0.00009
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=) rs137868589 0.00009
NM_006516.4(SLC2A1):c.18+14C>T rs970369883 0.00009
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530 0.00007
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937 0.00007
NM_000642.3(AGL):c.4164C>G (p.Ala1388=) rs142809832 0.00007
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449 0.00006
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00006
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000642.3(AGL):c.103T>C (p.Leu35=) rs370307706 0.00006
NM_000642.3(AGL):c.293+3A>G rs375459662 0.00006
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388 0.00006
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) rs763664146 0.00006
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=) rs539490455 0.00006
NM_000046.5(ARSB):c.658A>G (p.Ile220Val) rs202130413 0.00005
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491 0.00005
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308 0.00005
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606 0.00005
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579 0.00004
NM_000528.4(MAN2B1):c.282C>T (p.His94=) rs766810849 0.00004
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr) rs749067830 0.00004
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=) rs780638574 0.00004
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=) rs779779804 0.00004
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=) rs534113895 0.00004
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=) rs368242382 0.00004
NM_000152.5(GAA):c.18G>C (p.Pro6=) rs774703637 0.00003
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733 0.00003
NM_000642.3(AGL):c.2814T>G (p.Gly938=) rs147590282 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=) rs755571737 0.00003
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=) rs778522408 0.00003
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=) rs771761940 0.00002
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=) rs561895292 0.00002
NM_000642.3(AGL):c.1900-6T>C rs749096703 0.00002
NM_000642.3(AGL):c.2682-7T>C rs375256646 0.00002
NM_000642.3(AGL):c.3362+9G>A rs747485058 0.00002
NM_000642.3(AGL):c.4539C>T (p.Phe1513=) rs752519483 0.00002
NM_000642.3(AGL):c.959-15T>C rs1159446395 0.00002
NM_000642.3(AGL):c.966G>A (p.Arg322=) rs199905460 0.00002
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=) rs145962512 0.00002
NM_006516.4(SLC2A1):c.495C>T (p.Val165=) rs181115612 0.00002
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=) rs566497194 0.00002
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=) rs201996220 0.00002
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036 0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808 0.00001
NM_000152.5(GAA):c.692+9T>C rs367661167 0.00001
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424 0.00001
NM_000154.2(GALK1):c.216G>A (p.Leu72=) rs752773767 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000199.5(SGSH):c.816C>T (p.Ser272=) rs200485062 0.00001
NM_000199.5(SGSH):c.88+8C>T rs75720127 0.00001
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426 0.00001
NM_000512.5(GALNS):c.567-3C>T rs549597016 0.00001
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=) rs747081586 0.00001
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002 0.00001
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=) rs775212002 0.00001
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000642.3(AGL):c.1082+4T>A rs781204563 0.00001
NM_000642.3(AGL):c.2337T>C (p.Ala779=) rs928189171 0.00001
NM_000642.3(AGL):c.2571A>G (p.Gln857=) rs373619867 0.00001
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398 0.00001
NM_000642.3(AGL):c.3741T>C (p.Phe1247=) rs1279212438 0.00001
NM_000642.3(AGL):c.83-17_83-16del rs751326594 0.00001
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=) rs372092107 0.00001
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=) rs755679518 0.00001
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=) rs758184335 0.00001
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=) rs750237005 0.00001
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=) rs769414573 0.00001
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile) rs200819771 0.00001
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=) rs766043826 0.00001
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=) rs760599149 0.00001
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=) rs759617721 0.00001
NM_006516.4(SLC2A1):c.680-16C>T rs752942175 0.00001
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=) rs770293853 0.00001
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=) rs775408842 0.00001
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=) rs1643460439 0.00001
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=) rs374241516 0.00001
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=) rs924683894 0.00001
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.18G>A (p.Pro6=) rs774703637
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2647-71G>C rs4889821
NM_000152.5(GAA):c.546+8G>A rs200107080
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.981G>A (p.Ser327=) rs143223388
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro) rs1479309756
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=) rs1376771729
NM_000642.3(AGL):c.2001+8_2001+9delinsCT rs1064794512
NM_000642.3(AGL):c.2158-18_2158-16del rs770934299
NM_000642.3(AGL):c.2565T>C (p.His855=) rs1312742910
NM_000642.3(AGL):c.3260-14_3260-10dup rs1653309500
NM_000642.3(AGL):c.3701-5T>G rs1057523410
NM_000642.3(AGL):c.4119T>C (p.Cys1373=) rs1057521342
NM_000642.3(AGL):c.4161+11C>G rs886038361
NM_000642.3(AGL):c.4290T>C (p.Asn1430=) rs886038362
NM_000642.3(AGL):c.4482-18G>A rs1057521645
NM_000642.3(AGL):c.4482-19T>C rs370127763
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1075-14G>A rs777450540
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=) rs1469205406
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=) rs76672402
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=) rs1393465480
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=) rs2124449097
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=) rs1553156067
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=) rs1553156049
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=) rs780528770
NM_006516.4(SLC2A1):c.972+20C>G rs781545555
NM_006516.4(SLC2A1):c.972+7C>G rs1553155998
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=) rs372195490

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