ClinVar Miner

List of variants reported as likely benign for Hyperammonemia, type III

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 364
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HGVS dbSNP gnomAD frequency
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01375
NM_153006.3(NAGS):c.1281C>G (p.Ala427=) rs371886833 0.00210
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00187
NM_153006.3(NAGS):c.1368C>G (p.Ser456=) rs147700427 0.00184
NM_153006.3(NAGS):c.1268+11G>A rs201629145 0.00183
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn) rs140481641 0.00135
NM_153006.3(NAGS):c.1302C>T (p.Pro434=) rs150004962 0.00068
NM_153006.3(NAGS):c.246G>A (p.Pro82=) rs747154237 0.00033
NM_153006.3(NAGS):c.210C>G (p.Ser70=) rs570583859 0.00019
NM_153006.3(NAGS):c.1096+8C>T rs371563014 0.00012
NM_153006.3(NAGS):c.939C>T (p.Pro313=) rs749692636 0.00012
NM_153006.3(NAGS):c.1188C>T (p.Asn396=) rs374040892 0.00009
NM_153006.3(NAGS):c.1452-11C>T rs371793544 0.00009
NM_153006.3(NAGS):c.30G>C (p.Leu10=) rs530353203 0.00009
NM_153006.3(NAGS):c.414C>T (p.Phe138=) rs535765680 0.00009
NM_153006.3(NAGS):c.912T>C (p.His304=) rs373352475 0.00009
NM_153006.3(NAGS):c.1269-18G>A rs369686713 0.00008
NM_153006.3(NAGS):c.722T>C (p.Val241Ala) rs201142696 0.00008
NM_153006.3(NAGS):c.1152C>T (p.Asp384=) rs773966217 0.00004
NM_153006.3(NAGS):c.1392G>A (p.Leu464=) rs758356127 0.00004
NM_153006.3(NAGS):c.291G>A (p.Ser97=) rs769434080 0.00004
NM_153006.3(NAGS):c.429G>A (p.Val143=) rs199976538 0.00004
NM_153006.3(NAGS):c.534G>A (p.Pro178=) rs539061299 0.00004
NM_153006.3(NAGS):c.573G>A (p.Glu191=) rs748018121 0.00004
NM_153006.3(NAGS):c.622C>A (p.Arg208=) rs762205848 0.00004
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr) rs186127828 0.00004
NM_153006.3(NAGS):c.1038C>T (p.His346=) rs754276418 0.00003
NM_153006.3(NAGS):c.1311G>T (p.Gly437=) rs762358574 0.00003
NM_153006.3(NAGS):c.1416C>T (p.Phe472=) rs769484401 0.00003
NM_153006.3(NAGS):c.1479C>T (p.Phe493=) rs551970622 0.00003
NM_153006.3(NAGS):c.1275C>T (p.Asn425=) rs758320949 0.00002
NM_153006.3(NAGS):c.417C>T (p.Ala139=) rs776301293 0.00002
NM_153006.3(NAGS):c.505A>T (p.Met169Leu) rs569174201 0.00002
NM_153006.3(NAGS):c.834C>T (p.Thr278=) rs1355724687 0.00002
NM_153006.3(NAGS):c.852G>A (p.Ala284=) rs781691544 0.00002
NM_153006.3(NAGS):c.1000C>A (p.Arg334=) rs201310602 0.00001
NM_153006.3(NAGS):c.1047C>T (p.Ala349=) rs1401837626 0.00001
NM_153006.3(NAGS):c.1096+9G>A rs1194405418 0.00001
NM_153006.3(NAGS):c.1101C>T (p.Ser367=) rs777811683 0.00001
NM_153006.3(NAGS):c.1110G>C (p.Leu370=) rs1597866171 0.00001
NM_153006.3(NAGS):c.1191C>T (p.Ala397=) rs764654474 0.00001
NM_153006.3(NAGS):c.1197C>T (p.Phe399=) rs751627477 0.00001
NM_153006.3(NAGS):c.1222C>T (p.Leu408=) rs1418116310 0.00001
NM_153006.3(NAGS):c.1242G>A (p.Arg414=) rs754959332 0.00001
NM_153006.3(NAGS):c.1257C>T (p.Tyr419=) rs1235142426 0.00001
NM_153006.3(NAGS):c.1299G>A (p.Glu433=) rs104894607 0.00001
NM_153006.3(NAGS):c.1317C>T (p.Thr439=) rs1483196926 0.00001
NM_153006.3(NAGS):c.1452-4C>G rs749449489 0.00001
NM_153006.3(NAGS):c.1551C>T (p.His517=) rs757631705 0.00001
NM_153006.3(NAGS):c.1563G>A (p.Leu521=) rs368798366 0.00001
NM_153006.3(NAGS):c.180C>A (p.Pro60=) rs1295356207 0.00001
NM_153006.3(NAGS):c.216G>T (p.Ser72=) rs891726101 0.00001
NM_153006.3(NAGS):c.273G>A (p.Glu91=) rs1302576935 0.00001
NM_153006.3(NAGS):c.297C>T (p.Arg99=) rs1381024708 0.00001
NM_153006.3(NAGS):c.303G>T (p.Leu101=) rs986684848 0.00001
NM_153006.3(NAGS):c.351T>G (p.Pro117=) rs1214682844 0.00001
NM_153006.3(NAGS):c.427-222G>A rs2049072767 0.00001
NM_153006.3(NAGS):c.42T>C (p.Ala14=) rs752217893 0.00001
NM_153006.3(NAGS):c.450C>T (p.Cys150=) rs750572927 0.00001
NM_153006.3(NAGS):c.459C>T (p.Gly153=) rs1259861627 0.00001
NM_153006.3(NAGS):c.51G>A (p.Pro17=) rs1009436443 0.00001
NM_153006.3(NAGS):c.585G>A (p.Gln195=) rs1418200676 0.00001
NM_153006.3(NAGS):c.618G>A (p.Ala206=) rs767680440 0.00001
NM_153006.3(NAGS):c.645G>T (p.Val215=) rs766418377 0.00001
NM_153006.3(NAGS):c.675C>A (p.Arg225=) rs1436648834 0.00001
NM_153006.3(NAGS):c.687G>T (p.Pro229=) rs1319985208 0.00001
NM_153006.3(NAGS):c.696T>C (p.His232=) rs1268332465 0.00001
NM_153006.3(NAGS):c.701+11G>A rs1206538981 0.00001
NM_153006.3(NAGS):c.708C>A (p.Gly236=) rs202223128 0.00001
NM_153006.3(NAGS):c.714C>T (p.Ile238=) rs751366509 0.00001
NM_153006.3(NAGS):c.795C>T (p.Ala265=) rs763221725 0.00001
NM_153006.3(NAGS):c.81C>A (p.Gly27=) rs1473496570 0.00001
NM_153006.3(NAGS):c.837G>A (p.Ala279=) rs778475082 0.00001
NM_153006.3(NAGS):c.853C>T (p.Leu285=) rs746317425 0.00001
NM_153006.3(NAGS):c.858G>A (p.Arg286=) rs373673751 0.00001
NM_153006.3(NAGS):c.879C>G (p.Leu293=) rs1236291283 0.00001
NM_153006.3(NAGS):c.897G>A (p.Leu299=) rs1453345879 0.00001
NM_153006.3(NAGS):c.915+10T>C rs780755353 0.00001
NM_153006.3(NAGS):c.915+18A>G rs1470219186 0.00001
NM_153006.3(NAGS):c.915+6_915+7insAA rs745844473 0.00001
NM_153006.3(NAGS):c.916-9C>T rs1162697855 0.00001
NM_153006.3(NAGS):c.927C>T (p.Asn309=) rs551054997 0.00001
NM_153006.3(NAGS):c.942C>T (p.Ala314=) rs1226554229 0.00001
NM_153006.3(NAGS):c.975G>A (p.Val325=) rs770676572 0.00001
NM_153006.3(NAGS):c.1008C>T (p.Ile336=)
NM_153006.3(NAGS):c.1026C>A (p.Arg342=) rs2143987399
NM_153006.3(NAGS):c.1029G>A (p.Leu343=)
NM_153006.3(NAGS):c.102C>A (p.Gly34=) rs1466551045
NM_153006.3(NAGS):c.1032C>A (p.Pro344=)
NM_153006.3(NAGS):c.1032C>T (p.Pro344=) rs766601934
NM_153006.3(NAGS):c.1035C>T (p.His345=)
NM_153006.3(NAGS):c.1041C>T (p.Ser347=) rs2143987479
NM_153006.3(NAGS):c.1044G>A (p.Ser348=)
NM_153006.3(NAGS):c.1053C>A (p.Ile351=)
NM_153006.3(NAGS):c.1053C>T (p.Ile351=) rs2143987541
NM_153006.3(NAGS):c.1056C>T (p.Thr352=)
NM_153006.3(NAGS):c.1059C>T (p.Ala353=) rs1434296716
NM_153006.3(NAGS):c.105G>A (p.Ala35=) rs771197434
NM_153006.3(NAGS):c.1062T>C (p.Ala354=)
NM_153006.3(NAGS):c.1074C>T (p.Leu358=) rs2143987676
NM_153006.3(NAGS):c.1096+14G>C
NM_153006.3(NAGS):c.1096+17G>A
NM_153006.3(NAGS):c.1096+18G>T
NM_153006.3(NAGS):c.1096+25_1096+55del
NM_153006.3(NAGS):c.1096+7G>A rs2143987778
NM_153006.3(NAGS):c.1097-10C>G rs2143989589
NM_153006.3(NAGS):c.1097-11TCC[2]
NM_153006.3(NAGS):c.1097-12A>G
NM_153006.3(NAGS):c.1097-16C>T
NM_153006.3(NAGS):c.1097-19C>T
NM_153006.3(NAGS):c.1097-20C>T
NM_153006.3(NAGS):c.1097-4C>T
NM_153006.3(NAGS):c.1097-9C>T rs2143989599
NM_153006.3(NAGS):c.1104G>A (p.Gly368=)
NM_153006.3(NAGS):c.1107C>G (p.Thr369=) rs781536676
NM_153006.3(NAGS):c.1110G>A (p.Leu370=)
NM_153006.3(NAGS):c.1119C>T (p.Asn373=) rs2143989746
NM_153006.3(NAGS):c.1122C>A (p.Ala374=) rs2049107012
NM_153006.3(NAGS):c.114G>A (p.Arg38=)
NM_153006.3(NAGS):c.1155G>A (p.Lys385=) rs1180741674
NM_153006.3(NAGS):c.1167C>T (p.Gly389=)
NM_153006.3(NAGS):c.1170T>C (p.Arg390=) rs2143989936
NM_153006.3(NAGS):c.117G>A (p.Ala39=) rs765197938
NM_153006.3(NAGS):c.117G>C (p.Ala39=) rs765197938
NM_153006.3(NAGS):c.1185C>T (p.Val395=) rs1597866228
NM_153006.3(NAGS):c.120G>A (p.Ala40=)
NM_153006.3(NAGS):c.1212G>A (p.Arg404=) rs2143990187
NM_153006.3(NAGS):c.1215C>T (p.Asp405=)
NM_153006.3(NAGS):c.1224G>A (p.Leu408=) rs2143990246
NM_153006.3(NAGS):c.1227C>T (p.Ala409=) rs2049109242
NM_153006.3(NAGS):c.1230G>A (p.Ser410=)
NM_153006.3(NAGS):c.123G>A (p.Arg41=) rs2143978763
NM_153006.3(NAGS):c.1248C>T (p.His416=) rs1389030432
NM_153006.3(NAGS):c.1260C>A (p.Val420=)
NM_153006.3(NAGS):c.1263C>T (p.Ser421=)
NM_153006.3(NAGS):c.1268+10C>G rs1226354289
NM_153006.3(NAGS):c.1268+10C>T rs1226354289
NM_153006.3(NAGS):c.1268+12G>A
NM_153006.3(NAGS):c.1268+13A>G
NM_153006.3(NAGS):c.1268+15C>A
NM_153006.3(NAGS):c.1268+16C>T
NM_153006.3(NAGS):c.1268+17C>T
NM_153006.3(NAGS):c.1268+20A>C
NM_153006.3(NAGS):c.1268+7C>T
NM_153006.3(NAGS):c.1269-11C>T
NM_153006.3(NAGS):c.1269-14T>C
NM_153006.3(NAGS):c.1269-15C>T
NM_153006.3(NAGS):c.1269-18G>C
NM_153006.3(NAGS):c.1269-20C>T
NM_153006.3(NAGS):c.1269-5G>A
NM_153006.3(NAGS):c.1269-7G>A
NM_153006.3(NAGS):c.1278C>T (p.Ala426=)
NM_153006.3(NAGS):c.1281C>T (p.Ala427=)
NM_153006.3(NAGS):c.1284C>T (p.Ala428=) rs2143990754
NM_153006.3(NAGS):c.1290G>A (p.Leu430=)
NM_153006.3(NAGS):c.1290G>C (p.Leu430=) rs1411823216
NM_153006.3(NAGS):c.1293C>T (p.Thr431=) rs746570484
NM_153006.3(NAGS):c.1308G>C (p.Leu436=)
NM_153006.3(NAGS):c.1320G>C (p.Pro440=) rs2049112622
NM_153006.3(NAGS):c.1323C>T (p.Tyr441=)
NM_153006.3(NAGS):c.1347C>T (p.Ser449=) rs759863903
NM_153006.3(NAGS):c.135G>A (p.Pro45=) rs1390227455
NM_153006.3(NAGS):c.1368C>T (p.Ser456=)
NM_153006.3(NAGS):c.1378C>T (p.Leu460=) rs1272126077
NM_153006.3(NAGS):c.1380G>A (p.Leu460=)
NM_153006.3(NAGS):c.138G>A (p.Gly46=)
NM_153006.3(NAGS):c.1398G>A (p.Arg466=) rs369492320
NM_153006.3(NAGS):c.1398G>T (p.Arg466=) rs369492320
NM_153006.3(NAGS):c.1401C>T (p.Asp467=) rs2143991312
NM_153006.3(NAGS):c.1407G>A (p.Gln469=) rs1597866589
NM_153006.3(NAGS):c.1413T>C (p.Leu471=) rs745475802
NM_153006.3(NAGS):c.141C>A (p.Arg47=)
NM_153006.3(NAGS):c.141C>G (p.Arg47=)
NM_153006.3(NAGS):c.1428G>C (p.Arg476=) rs961520446
NM_153006.3(NAGS):c.1434C>A (p.Thr478=)
NM_153006.3(NAGS):c.1440C>T (p.Pro480=) rs1412613219
NM_153006.3(NAGS):c.1451+13A>G
NM_153006.3(NAGS):c.1451+16C>T
NM_153006.3(NAGS):c.1451+20G>C
NM_153006.3(NAGS):c.1451+7C>A rs755758863
NM_153006.3(NAGS):c.1451+7C>G rs755758863
NM_153006.3(NAGS):c.1451+9T>A
NM_153006.3(NAGS):c.1451+9_1451+10inv
NM_153006.3(NAGS):c.1452-12C>T
NM_153006.3(NAGS):c.1452-13T>G
NM_153006.3(NAGS):c.1452-15C>A
NM_153006.3(NAGS):c.1452-9C>G rs532143469
NM_153006.3(NAGS):c.1452-9C>T
NM_153006.3(NAGS):c.1464C>T (p.His488=)
NM_153006.3(NAGS):c.1470T>C (p.Asp490=) rs905032249
NM_153006.3(NAGS):c.147C>A (p.Leu49=)
NM_153006.3(NAGS):c.1491G>A (p.Gln497=) rs1377573272
NM_153006.3(NAGS):c.1503C>T (p.Phe501=)
NM_153006.3(NAGS):c.1515G>C (p.Leu505=) rs2049123033
NM_153006.3(NAGS):c.153C>T (p.Thr51=) rs2049062343
NM_153006.3(NAGS):c.1542G>A (p.Leu514=) rs1181746782
NM_153006.3(NAGS):c.1557G>A (p.Lys519=)
NM_153006.3(NAGS):c.1566A>C (p.Pro522=) rs1468250857
NM_153006.3(NAGS):c.156C>T (p.Ala52=) rs2143978978
NM_153006.3(NAGS):c.1572C>A (p.Ser524=) rs1020636428
NM_153006.3(NAGS):c.1587T>C (p.Ala529=) rs2143993662
NM_153006.3(NAGS):c.1593C>T (p.Asp531=) rs748372797
NM_153006.3(NAGS):c.1596A>C (p.Pro532=) rs2049124321
NM_153006.3(NAGS):c.15G>A (p.Leu5=) rs2143978145
NM_153006.3(NAGS):c.162G>A (p.Ser54=) rs2049062552
NM_153006.3(NAGS):c.168C>T (p.Pro56=) rs1597863930
NM_153006.3(NAGS):c.174C>T (p.Pro58=)
NM_153006.3(NAGS):c.177G>A (p.Pro59=)
NM_153006.3(NAGS):c.189C>T (p.Tyr63=) rs1555620394
NM_153006.3(NAGS):c.198G>A (p.Ala66=)
NM_153006.3(NAGS):c.198G>T (p.Ala66=)
NM_153006.3(NAGS):c.201C>T (p.Asp67=) rs748567515
NM_153006.3(NAGS):c.204C>T (p.Asp68=)
NM_153006.3(NAGS):c.210C>T (p.Ser70=) rs570583859
NM_153006.3(NAGS):c.216G>A (p.Ser72=)
NM_153006.3(NAGS):c.216G>C (p.Ser72=) rs891726101
NM_153006.3(NAGS):c.219C>T (p.Pro73=) rs2143979276
NM_153006.3(NAGS):c.225C>G (p.Ala75=) rs1192887521
NM_153006.3(NAGS):c.225C>T (p.Ala75=)
NM_153006.3(NAGS):c.234G>A (p.Pro78=)
NM_153006.3(NAGS):c.234G>T (p.Pro78=)
NM_153006.3(NAGS):c.24G>C (p.Val8=)
NM_153006.3(NAGS):c.252C>G (p.Pro84=)
NM_153006.3(NAGS):c.258C>T (p.Pro86=)
NM_153006.3(NAGS):c.261G>A (p.Pro87=)
NM_153006.3(NAGS):c.261G>C (p.Pro87=) rs890999429
NM_153006.3(NAGS):c.267C>T (p.Pro89=) rs1267196366
NM_153006.3(NAGS):c.270C>T (p.His90=) rs2143979493
NM_153006.3(NAGS):c.276C>G (p.Ser92=) rs2143979527
NM_153006.3(NAGS):c.294C>A (p.Gly98=) rs1252906552
NM_153006.3(NAGS):c.306G>A (p.Val102=) rs2143979742
NM_153006.3(NAGS):c.312G>A (p.Arg104=)
NM_153006.3(NAGS):c.312G>C (p.Arg104=) rs2143979790
NM_153006.3(NAGS):c.327C>T (p.Phe109=) rs2143979832
NM_153006.3(NAGS):c.330G>A (p.Leu110=)
NM_153006.3(NAGS):c.333C>T (p.Asn111=)
NM_153006.3(NAGS):c.336G>A (p.Gln112=)
NM_153006.3(NAGS):c.339C>T (p.Cys113=)
NM_153006.3(NAGS):c.342G>A (p.Gly114=)
NM_153006.3(NAGS):c.342G>C (p.Gly114=)
NM_153006.3(NAGS):c.354G>A (p.Gly118=) rs2143980002
NM_153006.3(NAGS):c.354G>C (p.Gly118=) rs2143980002
NM_153006.3(NAGS):c.360G>A (p.Ala120=)
NM_153006.3(NAGS):c.363C>A (p.Arg121=) rs1181064814
NM_153006.3(NAGS):c.381C>T (p.Phe127=) rs927052830
NM_153006.3(NAGS):c.399C>G (p.Ser133=) rs1395771233
NM_153006.3(NAGS):c.399C>T (p.Ser133=)
NM_153006.3(NAGS):c.402G>A (p.Ala134=)
NM_153006.3(NAGS):c.426+13C>T
NM_153006.3(NAGS):c.426+15G>C
NM_153006.3(NAGS):c.426+16C>T
NM_153006.3(NAGS):c.426+17G>A
NM_153006.3(NAGS):c.426+7G>A rs2143980401
NM_153006.3(NAGS):c.427-12dup
NM_153006.3(NAGS):c.427-218A>C
NM_153006.3(NAGS):c.427-4G>C
NM_153006.3(NAGS):c.427-5C>T rs1468991083
NM_153006.3(NAGS):c.427-9C>A
NM_153006.3(NAGS):c.427-9C>T rs764462133
NM_153006.3(NAGS):c.432C>T (p.Asp144=) rs2143982442
NM_153006.3(NAGS):c.435G>A (p.Glu145=) rs1361718132
NM_153006.3(NAGS):c.444C>A (p.Leu148=) rs2143982508
NM_153006.3(NAGS):c.459C>A (p.Gly153=)
NM_153006.3(NAGS):c.45A>C (p.Val15=)
NM_153006.3(NAGS):c.477T>C (p.Phe159=) rs2143982629
NM_153006.3(NAGS):c.480C>T (p.Ala160=) rs1157924781
NM_153006.3(NAGS):c.490T>C (p.Leu164=)
NM_153006.3(NAGS):c.492G>A (p.Leu164=) rs1372324564
NM_153006.3(NAGS):c.513G>A (p.Pro171=)
NM_153006.3(NAGS):c.513G>C (p.Pro171=)
NM_153006.3(NAGS):c.514C>T (p.Leu172=)
NM_153006.3(NAGS):c.516G>C (p.Leu172=)
NM_153006.3(NAGS):c.519G>T (p.Val173=)
NM_153006.3(NAGS):c.522C>T (p.Val174=)
NM_153006.3(NAGS):c.528G>A (p.Gly176=)
NM_153006.3(NAGS):c.540T>C (p.Pro180=) rs2143982962
NM_153006.3(NAGS):c.54G>A (p.Arg18=)
NM_153006.3(NAGS):c.552G>A (p.Ser184=)
NM_153006.3(NAGS):c.552G>C (p.Ser184=) rs766392856
NM_153006.3(NAGS):c.552G>T (p.Ser184=)
NM_153006.3(NAGS):c.555C>A (p.Gly185=) rs2143983063
NM_153006.3(NAGS):c.561T>A (p.Leu187=)
NM_153006.3(NAGS):c.561T>G (p.Leu187=)
NM_153006.3(NAGS):c.588G>A (p.Leu196=) rs2143983210
NM_153006.3(NAGS):c.591C>T (p.Ala197=)
NM_153006.3(NAGS):c.606G>C (p.Val202=) rs2143983282
NM_153006.3(NAGS):c.618G>T (p.Ala206=) rs767680440
NM_153006.3(NAGS):c.624A>T (p.Arg208=)
NM_153006.3(NAGS):c.630C>T (p.Asn210=) rs2049080644
NM_153006.3(NAGS):c.636C>T (p.Ala212=) rs767989838
NM_153006.3(NAGS):c.639T>C (p.Ala213=)
NM_153006.3(NAGS):c.63C>A (p.Gly21=)
NM_153006.3(NAGS):c.63C>G (p.Gly21=) rs751131092
NM_153006.3(NAGS):c.663G>A (p.Gly221=) rs2143983603
NM_153006.3(NAGS):c.675C>T (p.Arg225=) rs1436648834
NM_153006.3(NAGS):c.681C>G (p.Ala227=) rs886052982
NM_153006.3(NAGS):c.681C>T (p.Ala227=)
NM_153006.3(NAGS):c.687G>A (p.Pro229=) rs1319985208
NM_153006.3(NAGS):c.693C>T (p.Pro231=)
NM_153006.3(NAGS):c.6G>A (p.Ala2=) rs2143978073
NM_153006.3(NAGS):c.701+10C>T
NM_153006.3(NAGS):c.701+10del rs1304329263
NM_153006.3(NAGS):c.701+16G>C
NM_153006.3(NAGS):c.701+17C>T
NM_153006.3(NAGS):c.701+20G>A
NM_153006.3(NAGS):c.701+5_701+13dup
NM_153006.3(NAGS):c.701+7G>A
NM_153006.3(NAGS):c.701+8C>T
NM_153006.3(NAGS):c.702-14C>T
NM_153006.3(NAGS):c.702-16C>T
NM_153006.3(NAGS):c.702-20G>A
NM_153006.3(NAGS):c.702-4A>G
NM_153006.3(NAGS):c.702-7C>T
NM_153006.3(NAGS):c.711C>T (p.Gly237=)
NM_153006.3(NAGS):c.720G>A (p.Ser240=)
NM_153006.3(NAGS):c.720G>T (p.Ser240=)
NM_153006.3(NAGS):c.72C>T (p.Gly24=)
NM_153006.3(NAGS):c.735G>A (p.Leu245=) rs2143984745
NM_153006.3(NAGS):c.747C>T (p.Cys249=)
NM_153006.3(NAGS):c.750G>A (p.Leu250=)
NM_153006.3(NAGS):c.756G>A (p.Ser252=) rs778189681
NM_153006.3(NAGS):c.75T>G (p.Thr25=)
NM_153006.3(NAGS):c.768C>G (p.Pro256=)
NM_153006.3(NAGS):c.771C>T (p.Ile257=) rs777226243
NM_153006.3(NAGS):c.777C>T (p.Cys259=)
NM_153006.3(NAGS):c.783C>T (p.Ile261=)
NM_153006.3(NAGS):c.78G>T (p.Gly26=) rs2143978469
NM_153006.3(NAGS):c.798G>A (p.Ala266=) rs1259851618
NM_153006.3(NAGS):c.801C>A (p.Arg267=)
NM_153006.3(NAGS):c.801C>T (p.Arg267=)
NM_153006.3(NAGS):c.807C>T (p.Ser269=) rs767368629
NM_153006.3(NAGS):c.810G>A (p.Val270=) rs1171066992
NM_153006.3(NAGS):c.810G>T (p.Val270=) rs1171066992
NM_153006.3(NAGS):c.816C>T (p.Leu272=)
NM_153006.3(NAGS):c.81C>T (p.Gly27=) rs1473496570
NM_153006.3(NAGS):c.822C>T (p.Ser274=)
NM_153006.3(NAGS):c.831G>A (p.Val277=) rs779484535
NM_153006.3(NAGS):c.837G>T (p.Ala279=) rs778475082
NM_153006.3(NAGS):c.840G>A (p.Ser280=)
NM_153006.3(NAGS):c.840G>T (p.Ser280=)
NM_153006.3(NAGS):c.843G>A (p.Leu281=)
NM_153006.3(NAGS):c.852G>T (p.Ala284=)
NM_153006.3(NAGS):c.861C>T (p.Pro287=) rs2143985503
NM_153006.3(NAGS):c.864C>G (p.Thr288=) rs1196927943
NM_153006.3(NAGS):c.870C>T (p.Ile290=)
NM_153006.3(NAGS):c.885C>T (p.Asn295=)
NM_153006.3(NAGS):c.888A>T (p.Thr296=) rs2143985659
NM_153006.3(NAGS):c.900C>A (p.Arg300=) rs753318804
NM_153006.3(NAGS):c.900C>G (p.Arg300=) rs753318804
NM_153006.3(NAGS):c.906C>T (p.Ser302=) rs1433560187
NM_153006.3(NAGS):c.90G>A (p.Arg30=) rs2143978515
NM_153006.3(NAGS):c.915+14_915+16dup
NM_153006.3(NAGS):c.915+14_915+17del
NM_153006.3(NAGS):c.915+8C>G rs2143985981
NM_153006.3(NAGS):c.918C>A (p.Val306=) rs2049093957
NM_153006.3(NAGS):c.918C>T (p.Val306=)
NM_153006.3(NAGS):c.933C>T (p.Asn311=) rs2143986837
NM_153006.3(NAGS):c.936G>A (p.Leu312=)
NM_153006.3(NAGS):c.939C>G (p.Pro313=)
NM_153006.3(NAGS):c.951C>T (p.Asp317=) rs2143986927
NM_153006.3(NAGS):c.957G>A (p.Val319=)
NM_153006.3(NAGS):c.966C>T (p.Ala322=) rs2143987016
NM_153006.3(NAGS):c.9G>A (p.Thr3=)
NM_153006.3(NAGS):c.9G>T (p.Thr3=)

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