ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 425
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583 0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_021957.4(GYS2):c.495+1G>T rs372079212 0.00009
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_002103.5(GYS1):c.678+1G>A rs755305465 0.00006
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 0.00004
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000308.4(CTSA):c.601-2A>G rs778159802 0.00003
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) rs150513055 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter) rs904572688 0.00003
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) rs796052086 0.00003
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg) rs193922469 0.00003
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000155.4(GALT):c.688-2A>C rs398123185 0.00002
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00002
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981 0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp) rs374377679 0.00002
NM_005908.4(MANBA):c.550-1G>A rs760404534 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246 0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000046.5(ARSB):c.691-1G>A rs778868348 0.00001
NM_000151.4(G6PC1):c.757del (p.Ile253fs) rs2056092619 0.00001
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg) rs1272803483 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) rs892129065 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986 0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802 0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp) rs1703086906 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.2052+2T>C rs375596642 0.00001
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) rs193922260 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) rs193922340 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) rs193922360 0.00001
NM_000263.4(NAGLU):c.1021+1G>T rs1447465424 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter) rs1189568492 0.00001
NM_000352.6(ABCC8):c.1671+1G>C rs1057516509 0.00001
NM_000352.6(ABCC8):c.2202del (p.Ala736fs) rs1554924035 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser) rs1462559571 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000434.4(NEU1):c.692T>A (p.Leu231His) rs762400331 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000528.4(MAN2B1):c.1645-2A>T rs891030696 0.00001
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu) rs746702002 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu) rs113993986 0.00001
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter) rs769471341 0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter) rs1251881194 0.00001
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter) rs764858363 0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) rs180177307 0.00001
NM_012434.5(SLC17A5):c.1259+1G>A rs146095590 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
HNF4A deletion
NC_000003.11:g.(?_81538849)_(81539615_81548260)del
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
NC_000005.9:g.(78135250_78181406)_(78181651_78251117)dup
NC_000006.11:g.(?_74303101)_(74310165_74320122)del
NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del
NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del
NC_000011.9:g.(?_64513860)_(64514831_64517847)del
NC_000016.9:g.(87925561_87935517)_(87970113_?)del
NC_000017.10:g.(73754681_73758784)_(73761281_?)del
NM_000027.4(AGA):c.39del (p.Leu15fs)
NM_000027.4(AGA):c.3G>A (p.Met1Ile)
NM_000027.4(AGA):c.508-2A>C
NM_000030.3(AGXT):c.165+1G>T
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.250del (p.Leu84fs) rs1831190354
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.541-277_651del
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214-2A>G rs1554069808
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) rs1355071930
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter) rs1209412483
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del) rs969231209
NM_000046.5(ARSB):c.312+2T>G
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr) rs2116271469
NM_000108.5(DLD):c.268-1G>A
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886
NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter) rs2056081522
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) rs2056092151
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile) rs2056092654
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) rs2143883845
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.307T>C (p.Cys103Arg) rs398123174
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.836G>A (p.Trp279Ter) rs2039122730
NM_000152.5(GAA):c.858+2T>A rs1555599713
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.956-5_957del
NM_000154.2(GALK1):c.686dup (p.His229fs)
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.213dup (p.Asn72fs)
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.424A>G (p.Met142Val) rs111033692
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.687+1G>T rs193922250
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) rs1554709447
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) rs1703800818
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet) rs193922252
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs) rs193922253
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly) rs193922255
NM_000162.5(GCK):c.1020-1G>C rs193922258
NM_000162.5(GCK):c.103A>T (p.Arg35Ter) rs193922259
NM_000162.5(GCK):c.107G>C (p.Arg36Pro) rs193922261
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) rs193922262
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe) rs193922263
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg) rs193922267
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) rs193921338
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn) rs193921340
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr) rs193921340
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr) rs193922273
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) rs193922274
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs) rs193922275
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro) rs193922277
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn) rs193922278
NM_000162.5(GCK):c.131G>A (p.Gly44Asp) rs193922279
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1332del (p.Ser445fs) rs193922280
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr) rs193922282
NM_000162.5(GCK):c.1354G>C (p.Val452Leu)
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) rs193922284
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.5(GCK):c.253A>T (p.Arg85Trp) rs193922290
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) rs193922291
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp) rs193922292
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.509G>T (p.Gly170Val) rs193922303
NM_000162.5(GCK):c.527C>G (p.Ala176Gly) rs193922304
NM_000162.5(GCK):c.532G>A (p.Gly178Arg) rs193922305
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.563C>T (p.Ala188Val) rs193922307
NM_000162.5(GCK):c.57C>G (p.Ile19Met) rs193922308
NM_000162.5(GCK):c.587A>G (p.Glu196Gly) rs193922309
NM_000162.5(GCK):c.604A>G (p.Met202Val) rs193922310
NM_000162.5(GCK):c.615C>G (p.Asp205Glu) rs193922312
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) rs193922315
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) rs193922316
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000162.5(GCK):c.679+1del rs193922320
NM_000162.5(GCK):c.694G>A (p.Ala232Thr) rs193922322
NM_000162.5(GCK):c.704T>C (p.Met235Thr) rs193922323
NM_000162.5(GCK):c.74T>G (p.Leu25Arg) rs193922325
NM_000162.5(GCK):c.752T>C (p.Met251Thr) rs193922326
NM_000162.5(GCK):c.758T>C (p.Val253Ala) rs193921400
NM_000162.5(GCK):c.758T>G (p.Val253Gly) rs193921400
NM_000162.5(GCK):c.760A>C (p.Asn254His) rs193922327
NM_000162.5(GCK):c.768G>C (p.Glu256Asp) rs193922328
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.779T>C (p.Phe260Ser) rs193922330
NM_000162.5(GCK):c.812T>C (p.Leu271Pro) rs193922332
NM_000162.5(GCK):c.833A>T (p.Asp278Val) rs193922333
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr) rs193922339
NM_000175.5(GPI):c.1269+1G>A
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)
NM_000181.4(GUSB):c.724+1G>T rs2116026958
NM_000199.5(SGSH):c.1000dup (p.Ala334fs)
NM_000199.5(SGSH):c.1153del (p.Arg385fs) rs2041615714
NM_000199.5(SGSH):c.693_705del (p.Ala232fs) rs2041772144
NM_000202.8(IDS):c.1269del (p.Val424fs)
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg) rs1602725808
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.1282C>T (p.Gln428Ter)
NM_000203.5(IDUA):c.1395del (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs) rs1220371654
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe) rs2153023278
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs) rs1715314710
NM_000203.5(IDUA):c.306del (p.Thr103fs) rs1461124319
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter) rs1715035049
NM_000203.5(IDUA):c.512_513del (p.His171fs) rs1715069355
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.65del (p.Pro22fs) rs1560531755
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) rs193922355
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) rs193922356
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.229_236del (p.Val77fs) rs2143076634
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000289.6(PFKM):c.238-3A>G
NM_000308.4(CTSA):c.112del (p.Leu38fs) rs1241378191
NM_000340.2(SLC2A2):c.59G>A (p.Gly20Asp)
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.3400-1G>A rs576684889
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) rs1263082097
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro) rs2133402479
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs) rs2133400786
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu) rs193922405
NM_000352.6(ABCC8):c.580-2A>G
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.733+2T>C rs1699291583
NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)
NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)
NM_000434.4(NEU1):c.163C>T (p.Gln55Ter)
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_000507.4(FBP1):c.881G>T (p.Gly294Val)
NM_000512.5(GALNS):c.143T>G (p.Val48Gly) rs191519947
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp) rs61742258
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000512.5(GALNS):c.916T>G (p.Phe306Val) rs2142999207
NM_000528.4(MAN2B1):c.1929-2A>G rs2023856348
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro) rs193922577
NM_000545.8(HNF1A):c.1345_1346insG (p.Ile449fs) rs2135847490
NM_000545.8(HNF1A):c.139_155del (p.Gly47fs) rs2135819737
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs) rs193922582
NM_000545.8(HNF1A):c.169del (p.Leu57fs) rs193922588
NM_000545.8(HNF1A):c.1766dup (p.Val590fs)
NM_000545.8(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.313dup (p.Glu105fs) rs193922594
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) rs193922596
NM_000545.8(HNF1A):c.441C>A (p.His147Gln) rs193922597
NM_000545.8(HNF1A):c.518_526+37del rs386134267
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del) rs193922599
NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser) rs193922600
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile) rs193922602
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe) rs193922604
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser) rs193922605
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.214_215del (p.Glu72fs) rs754978531
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) rs1652018859
NM_000642.3(AGL):c.2433+1G>A rs2100768428
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000925.4(PDHB):c.310T>G (p.Leu104Val) rs201199166
NM_000925.4(PDHB):c.818del (p.Pro273fs)
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
NM_001008216.2(GALE):c.207C>A (p.Asp69Glu) rs1261697960
NM_001040616.3(LINS1):c.631+1G>A
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001164277.2(SLC37A4):c.148+2T>A
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter) rs781857990
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter) rs2134635160
NM_001164277.2(SLC37A4):c.872-2A>C rs920196110
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer) rs1064796014
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
NM_001370658.1(BTD):c.-17_-17+3del rs1050514843
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.270del (p.Pro91fs)
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) rs148031701
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
NM_001807.6(CEL):c.1776del (p.Val593fs) rs193922638
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
NM_004130.4(GYG1):c.7+2T>C
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) rs770037766
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.273-1G>A
NM_005908.4(MANBA):c.916del (p.Leu306fs)
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro) rs794727642
NM_006618.5(KDM5B):c.2945+1G>A rs2102232815
NM_012203.2(GRHPR):c.206_214+11del
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
NM_014168.4(METTL5):c.541+1G>C rs1467526653
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
NM_017721.5(CC2D1A):c.61-2A>G
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
NM_031229.4(RBCK1):c.582+1G>A rs1017046170
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs) rs1702201097
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr) rs1399404493
NM_145262.4(GLYCTK):c.1057del (p.His353fs) rs1700517033
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) rs193922471
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) rs1280663753
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro) rs193922474
NM_175914.5(HNF4A):c.575_582+10del rs193922475
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs) rs193922476
Single allele
p.X466Trp

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