ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by Counsyl

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 210
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HGVS dbSNP
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+19_394+20del rs575232762
NM_000030.3(AGXT):c.777-17C>A rs112319664
NM_000030.3(AGXT):c.942+14T>G rs886055843
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.799+11C>T rs182245025
NM_000151.4(G6PC1):c.340+20C>T rs183285298
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=) rs1555560103
NM_000152.5(GAA):c.1754+21C>T rs373387713
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
NM_000152.5(GAA):c.2040+16C>T rs573522544
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC rs3071247
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000155.4(GALT):c.1059+24G>A rs111033840
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000203.5(IDUA):c.1083G>A (p.Ala361=) rs1553917295
NM_000203.5(IDUA):c.1161C>T (p.Leu387=) rs1553917312
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.299+1078del rs1553915149
NM_000203.5(IDUA):c.299+1087G>A rs1162410484
NM_000203.5(IDUA):c.299+1089del rs1553915155
NM_000203.5(IDUA):c.299+1104G>A rs387907484
NM_000203.5(IDUA):c.299+1127del rs1553915173
NM_000203.5(IDUA):c.299+1225G>A rs200798328
NM_000203.5(IDUA):c.299+1235_299+1261del rs1553915189
NM_000203.5(IDUA):c.299+1238del rs1553915192
NM_000203.5(IDUA):c.299+1255del rs1372086275
NM_000203.5(IDUA):c.299+1279C>T rs387907481
NM_000203.5(IDUA):c.299+1313del rs778770773
NM_000203.5(IDUA):c.299+1362_299+1363del rs1265696919
NM_000203.5(IDUA):c.299+1363dup rs1265696919
NM_000203.5(IDUA):c.299+1414_299+1415del rs1553915228
NM_000203.5(IDUA):c.299+1506del rs1553915253
NM_000203.5(IDUA):c.299+1542A>T rs387907487
NM_000203.5(IDUA):c.299+1627G>A rs387907483
NM_000203.5(IDUA):c.299+1638del rs768949918
NM_000203.5(IDUA):c.299+3322C>T rs387907486
NM_000203.5(IDUA):c.299+3360A>G rs760075470
NM_000203.5(IDUA):c.299+3399C>T rs368990025
NM_000203.5(IDUA):c.299+3410_299+3424dup rs778682733
NM_000203.5(IDUA):c.299+3410del rs756881822
NM_000203.5(IDUA):c.299+3420del rs1553915711
NM_000203.5(IDUA):c.299+3444_299+3445del rs758100654
NM_000203.5(IDUA):c.299+3446A>T rs1553915726
NM_000203.5(IDUA):c.299+3455G>T rs752252231
NM_000203.5(IDUA):c.299+3566G>T rs941971930
NM_000203.5(IDUA):c.299+3602del rs1553915784
NM_000203.5(IDUA):c.299+3617del rs1553915793
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191
NM_000263.4(NAGLU):c.531+46_531+75del rs1555621618
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000352.5(ABCC8):c.2256-16del rs774508952
NM_000352.5(ABCC8):c.2475+19G>A rs373894772
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.858C>T (p.Thr286=) rs770638519
NM_000528.4(MAN2B1):c.1109+41C>A rs200862799
NM_000528.4(MAN2B1):c.2355+33C>T rs374660827
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.82+1547T>C rs1553181605
NM_000642.3(AGL):c.83-17_83-16del rs751326594
NM_000642.3(AGL):c.83-19del rs1553183146
NM_000642.3(AGL):c.83-24del rs1553183144
NM_000642.3(AGL):c.83-29G>T rs767476472
NM_001040716.2(PC):c.633+38_633+58del rs1213292231
NM_001164277.1(SLC37A4):c.1008T>C (p.Ala336=) rs782726848
NM_001164277.1(SLC37A4):c.1023C>T (p.Ser341=) rs1555190535
NM_001164277.1(SLC37A4):c.1032C>G (p.Gly344=) rs1555190521
NM_001164277.1(SLC37A4):c.1042C>T (p.Leu348=) rs1555190509
NM_001164277.1(SLC37A4):c.1068T>C (p.Ser356=) rs946752823
NM_001164277.1(SLC37A4):c.1071C>T (p.Ala357=) rs1555190486
NM_001164277.1(SLC37A4):c.1077C>G (p.Pro359=) rs1555190477
NM_001164277.1(SLC37A4):c.108A>C (p.Pro36=) rs1555191843
NM_001164277.1(SLC37A4):c.1101C>T (p.Ala367=) rs1555190455
NM_001164277.1(SLC37A4):c.1123+18G>C rs1555190434
NM_001164277.1(SLC37A4):c.1123+25T>C rs782603352
NM_001164277.1(SLC37A4):c.1123+26C>T rs782811246
NM_001164277.1(SLC37A4):c.1123+34C>T rs1555190425
NM_001164277.1(SLC37A4):c.1123+36C>A rs547915912
NM_001164277.1(SLC37A4):c.1123+36C>G rs547915912
NM_001164277.1(SLC37A4):c.1123+38C>G rs1184172656
NM_001164277.1(SLC37A4):c.1123+38C>T rs1184172656
NM_001164277.1(SLC37A4):c.1123+49C>T rs782799385
NM_001164277.1(SLC37A4):c.1123+51T>C rs1555190420
NM_001164277.1(SLC37A4):c.1123+55G>A rs1555190418
NM_001164277.1(SLC37A4):c.1123+57C>T rs1555190417
NM_001164277.1(SLC37A4):c.1123+7G>A rs1555190438
NM_001164277.1(SLC37A4):c.1123+8T>C rs377506675
NM_001164277.1(SLC37A4):c.1124-29G>A rs1262126192
NM_001164277.1(SLC37A4):c.1124-41C>T rs782175115
NM_001164277.1(SLC37A4):c.1124-44G>A rs1256742179
NM_001164277.1(SLC37A4):c.1124-53G>A rs1555190416
NM_001164277.1(SLC37A4):c.1164C>G (p.Ala388=) rs1464199067
NM_001164277.1(SLC37A4):c.1173C>T (p.Tyr391=) rs1555190394
NM_001164277.1(SLC37A4):c.1185A>G (p.Thr395=) rs1555190388
NM_001164277.1(SLC37A4):c.1230C>T (p.Ala410=) rs1555190367
NM_001164277.1(SLC37A4):c.1281G>A (p.Lys427=) rs782137743
NM_001164277.1(SLC37A4):c.138G>A (p.Lys46=) rs1555191835
NM_001164277.1(SLC37A4):c.144T>C (p.Asp48=) rs1310970870
NM_001164277.1(SLC37A4):c.148+20G>A rs782050642
NM_001164277.1(SLC37A4):c.149-16G>A rs373027415
NM_001164277.1(SLC37A4):c.149-20A>G rs1555191648
NM_001164277.1(SLC37A4):c.149-21T>G rs1555191649
NM_001164277.1(SLC37A4):c.149-22C>T rs369353938
NM_001164277.1(SLC37A4):c.149-23C>T rs1283313486
NM_001164277.1(SLC37A4):c.15C>G (p.Gly5=) rs1555191904
NM_001164277.1(SLC37A4):c.258G>A (p.Leu86=) rs1555191590
NM_001164277.1(SLC37A4):c.282T>C (p.Phe94=) rs1555191568
NM_001164277.1(SLC37A4):c.291C>T (p.Ser97=) rs561054469
NM_001164277.1(SLC37A4):c.345G>A (p.Gly115=) rs782188658
NM_001164277.1(SLC37A4):c.348G>A (p.Leu116=) rs1555191533
NM_001164277.1(SLC37A4):c.351C>T (p.Gly117=) rs1311198538
NM_001164277.1(SLC37A4):c.357C>G (p.Pro119=) rs782358834
NM_001164277.1(SLC37A4):c.360A>G (p.Pro120=) rs1555191522
NM_001164277.1(SLC37A4):c.366G>A (p.Gly122=) rs1555191518
NM_001164277.1(SLC37A4):c.381+15A>G rs1057520372
NM_001164277.1(SLC37A4):c.381+8C>T rs782284449
NM_001164277.1(SLC37A4):c.382-16G>A rs778665353
NM_001164277.1(SLC37A4):c.382-17C>T rs1369693461
NM_001164277.1(SLC37A4):c.382-19G>T rs1380601197
NM_001164277.1(SLC37A4):c.459T>A (p.Pro153=) rs1555191349
NM_001164277.1(SLC37A4):c.45A>T (p.Ser15=) rs1555191880
NM_001164277.1(SLC37A4):c.468A>G (p.Ala156=) rs1395094300
NM_001164277.1(SLC37A4):c.471C>T (p.Thr157=) rs775227522
NM_001164277.1(SLC37A4):c.522A>C (p.Ala174=) rs369409989
NM_001164277.1(SLC37A4):c.552C>A (p.Leu184=) rs1300746467
NM_001164277.1(SLC37A4):c.555G>C (p.Leu185=) rs891986567
NM_001164277.1(SLC37A4):c.558C>T (p.Leu186=) rs745721191
NM_001164277.1(SLC37A4):c.561C>A (p.Ile187=) rs1555191248
NM_001164277.1(SLC37A4):c.576T>C (p.Ala192=) rs1555191231
NM_001164277.1(SLC37A4):c.588C>T (p.Leu196=) rs1555191222
NM_001164277.1(SLC37A4):c.625+10C>A rs757924969
NM_001164277.1(SLC37A4):c.625+11A>T rs747150144
NM_001164277.1(SLC37A4):c.625+12C>T rs549251533
NM_001164277.1(SLC37A4):c.625+13C>T rs746096087
NM_001164277.1(SLC37A4):c.625+16G>C rs74673344
NM_001164277.1(SLC37A4):c.625+25C>T rs533221443
NM_001164277.1(SLC37A4):c.625+30G>A rs1555191200
NM_001164277.1(SLC37A4):c.625+35C>G rs1555191199
NM_001164277.1(SLC37A4):c.625+7C>T rs1555191207
NM_001164277.1(SLC37A4):c.626-16C>G rs1011663035
NM_001164277.1(SLC37A4):c.630C>T (p.Ser210=) rs1470803048
NM_001164277.1(SLC37A4):c.649C>T (p.Leu217=) rs1555191117
NM_001164277.1(SLC37A4):c.684G>A (p.Val228=) rs925741468
NM_001164277.1(SLC37A4):c.690C>G (p.Ser230=) rs782333619
NM_001164277.1(SLC37A4):c.708G>A (p.Val236=) rs1223570543
NM_001164277.1(SLC37A4):c.723C>G (p.Thr241=) rs782547500
NM_001164277.1(SLC37A4):c.747C>T (p.Phe249=) rs782584884
NM_001164277.1(SLC37A4):c.780T>C (p.Leu260=) rs1555191052
NM_001164277.1(SLC37A4):c.784+12A>G rs976964945
NM_001164277.1(SLC37A4):c.784+13T>C rs1351380633
NM_001164277.1(SLC37A4):c.784+16G>A rs1283553362
NM_001164277.1(SLC37A4):c.784+8G>A rs782075266
NM_001164277.1(SLC37A4):c.785-20A>G rs1555191008
NM_001164277.1(SLC37A4):c.849G>A (p.Leu283=) rs369860234
NM_001164277.1(SLC37A4):c.867A>C (p.Ala289=) rs1555190933
NM_001164277.1(SLC37A4):c.870+19C>T rs782487764
NM_001164277.1(SLC37A4):c.870+7G>A rs782177602
NM_001164277.1(SLC37A4):c.871-16G>A rs766656496
NM_001164277.1(SLC37A4):c.871-17C>T rs1286218803
NM_001164277.1(SLC37A4):c.879G>C (p.Leu293=) rs1555190765
NM_001164277.1(SLC37A4):c.891G>A (p.Gly297=) rs1388277495
NM_001164277.1(SLC37A4):c.906C>A (p.Gly302=) rs374287329
NM_001164277.1(SLC37A4):c.907C>T (p.Leu303=) rs1555190749
NM_001164277.1(SLC37A4):c.909G>A (p.Leu303=) rs1555190747
NM_001164277.1(SLC37A4):c.913C>T (p.Leu305=) rs1555190743
NM_001164277.1(SLC37A4):c.942C>T (p.Ser314=) rs1555190722
NM_001164277.1(SLC37A4):c.957G>A (p.Arg319=) rs973616226
NM_001164277.1(SLC37A4):c.957G>C (p.Arg319=) rs973616226
NM_001164277.1(SLC37A4):c.96C>T (p.Ser32=) rs782234184
NM_001164277.1(SLC37A4):c.984+195C>T rs1189232257
NM_001164277.1(SLC37A4):c.984+206C>T rs1555190652
NM_001164277.1(SLC37A4):c.984+217C>T rs1213577149
NM_001164277.1(SLC37A4):c.984+226C>T rs959584744
NM_001164277.1(SLC37A4):c.984+228C>G rs201997939
NM_001164277.1(SLC37A4):c.984+234C>T rs1555190642
NM_001164277.1(SLC37A4):c.984+245C>T rs1348642148
NM_001164277.1(SLC37A4):c.984+246G>A rs1314659619
NM_001164277.1(SLC37A4):c.984+248G>A rs369907198
NM_001164277.1(SLC37A4):c.984+252C>G rs1173737788
NM_001164277.1(SLC37A4):c.984+270C>T rs782800127
NM_001164277.1(SLC37A4):c.984+276G>A rs1555190629
NM_001164277.1(SLC37A4):c.984+278G>A rs781909226
NM_001164277.1(SLC37A4):c.984+283A>G rs1009983005
NM_001164277.1(SLC37A4):c.984+286G>A rs1019246810
NM_001164277.1(SLC37A4):c.984+288T>G rs1555190624
NM_001164277.1(SLC37A4):c.984+290T>C rs781943252
NM_001164277.1(SLC37A4):c.984+295G>A rs1208499204
NM_001164277.1(SLC37A4):c.985-18C>T rs374784735
NM_001164277.1(SLC37A4):c.993C>T (p.Ile331=) rs1555190553
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001467.6(SLC37A4):c.149-35del rs1555191655
NM_001467.6(SLC37A4):c.786-18_786-16del rs1555191005
NM_001467.6(SLC37A4):c.985+196del rs1555190657
NM_001467.6(SLC37A4):c.985+238dup rs1555190640
NM_001467.6(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT rs1555190633
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_012203.2(GRHPR):c.83+51G>A rs1554746162
NM_012203.2(GRHPR):c.83+51_83+52delinsA rs35891798

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