ClinVar Miner

List of variants in gene NAGS studied for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 556
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HGVS dbSNP gnomAD frequency
NM_153006.3(NAGS):c.1451+9T>C rs228773 0.93334
NM_153006.3(NAGS):c.916-57T>C rs228770 0.91995
NM_153006.3(NAGS):c.*211C>T rs640631 0.86592
NM_153006.3(NAGS):c.*3C>T rs186636 0.54224
NM_153006.3(NAGS):c.1096+20C>G rs228771 0.28327
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01375
NM_153006.3(NAGS):c.284C>T (p.Pro95Leu) rs200607114 0.00480
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.612A>G (p.Val204=) rs139907815 0.00134
NM_153006.3(NAGS):c.426+19G>A rs368844914 0.00110
NM_153006.3(NAGS):c.1302C>T (p.Pro434=) rs150004962 0.00068
NM_153006.3(NAGS):c.*90G>A rs567905267 0.00055
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.1234C>T (p.Arg412Cys) rs201703838 0.00013
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.1274A>G (p.Asn425Ser) rs752635329 0.00009
NM_153006.3(NAGS):c.1452-11C>T rs371793544 0.00009
NM_153006.3(NAGS):c.299C>G (p.Ser100Trp) rs764150659 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.715G>A (p.Val239Ile) rs143427275 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.1171C>G (p.Leu391Val) rs537949245 0.00007
NM_153006.3(NAGS):c.290C>T (p.Ser97Leu) rs746624443 0.00006
NM_153006.3(NAGS):c.*382C>T rs923164970 0.00005
NM_153006.3(NAGS):c.1152C>T (p.Asp384=) rs773966217 0.00004
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile) rs761558985 0.00004
NM_153006.3(NAGS):c.1392G>A (p.Leu464=) rs758356127 0.00004
NM_153006.3(NAGS):c.1526G>A (p.Arg509Gln) rs759076608 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.8C>T (p.Thr3Met) rs958791517 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.376C>A (p.Gln126Lys) rs942089643 0.00003
NM_153006.3(NAGS):c.80G>A (p.Gly27Asp) rs755538430 0.00003
NM_153006.3(NAGS):c.*43A>G rs762719000 0.00002
NM_153006.3(NAGS):c.1139T>A (p.Val380Glu) rs749187900 0.00002
NM_153006.3(NAGS):c.1275C>T (p.Asn425=) rs758320949 0.00002
NM_153006.3(NAGS):c.1446T>A (p.Asn482Lys) rs915618486 0.00002
NM_153006.3(NAGS):c.1593C>G (p.Asp531Glu) rs748372797 0.00002
NM_153006.3(NAGS):c.350C>T (p.Pro117Leu) rs767257841 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.572A>G (p.Glu191Gly) rs778797257 0.00002
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter) rs748875458 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.*115G>A rs1215816858 0.00001
NM_153006.3(NAGS):c.1000C>A (p.Arg334=) rs201310602 0.00001
NM_153006.3(NAGS):c.1025del (p.Arg342fs) rs730880266 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.1113C>A (p.Phe371Leu) rs755872617 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.1204A>C (p.Lys402Gln) rs984226051 0.00001
NM_153006.3(NAGS):c.1222C>T (p.Leu408=) rs1418116310 0.00001
NM_153006.3(NAGS):c.1231C>A (p.Leu411Met) rs199923863 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.1270T>A (p.Tyr424Asn) rs1555620800 0.00001
NM_153006.3(NAGS):c.1272C>G (p.Tyr424Ter) rs1214956593 0.00001
NM_153006.3(NAGS):c.1283C>T (p.Ala428Val) rs1160426864 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.154G>T (p.Ala52Ser) rs1473994582 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.1597G>A (p.Gly533Ser) rs139304608 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.251C>T (p.Pro84Leu) rs1381894842 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.34G>A (p.Ala12Thr) rs759453873 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.721G>T (p.Val241Leu) rs899402990 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.1018C>T (p.Leu340Phe) rs2143987322
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.102_103insAGATCGGAAGA (p.Ala35fs) rs1567941557
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.1037_1070del (p.His346fs)
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.1057G>T (p.Ala353Ser) rs1320094253
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.106_107del (p.Arg36fs) rs2143978561
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+1G>A
NM_153006.3(NAGS):c.1096+25_1096+55del
NM_153006.3(NAGS):c.1096+2T>G rs2049097522
NM_153006.3(NAGS):c.1096+2_1096+7del
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.1097-1G>A
NM_153006.3(NAGS):c.1097-1G>C rs2143989613
NM_153006.3(NAGS):c.1097-20C>T
NM_153006.3(NAGS):c.1097-2A>G rs2049106256
NM_153006.3(NAGS):c.1097-4C>T
NM_153006.3(NAGS):c.1097-52_1105del rs2143989504
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.1108del (p.Leu370fs)
NM_153006.3(NAGS):c.110G>A (p.Arg37Gln)
NM_153006.3(NAGS):c.1110G>A (p.Leu370=)
NM_153006.3(NAGS):c.1113dup (p.Lys372fs) rs2143989730
NM_153006.3(NAGS):c.1114A>T (p.Lys372Ter) rs2049106859
NM_153006.3(NAGS):c.1119C>T (p.Asn373=) rs2143989746
NM_153006.3(NAGS):c.111_120del (p.Arg38fs) rs2143978628
NM_153006.3(NAGS):c.1122C>A (p.Ala374=) rs2049107012
NM_153006.3(NAGS):c.114G>A (p.Arg38=)
NM_153006.3(NAGS):c.114_120dup (p.Arg41fs)
NM_153006.3(NAGS):c.1155G>A (p.Lys385=) rs1180741674
NM_153006.3(NAGS):c.115G>A (p.Ala39Thr)
NM_153006.3(NAGS):c.1165G>A (p.Gly389Ser) rs2049107623
NM_153006.3(NAGS):c.1167C>T (p.Gly389=)
NM_153006.3(NAGS):c.116C>T (p.Ala39Val) rs754480096
NM_153006.3(NAGS):c.116_122dup (p.Arg41fs)
NM_153006.3(NAGS):c.1170T>C (p.Arg390=) rs2143989936
NM_153006.3(NAGS):c.1175T>A (p.Val392Glu) rs1168032842
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.1192A>T (p.Ser398Cys)
NM_153006.3(NAGS):c.1199G>C (p.Gly400Ala)
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.1219T>C (p.Tyr407His) rs1483447934
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.1228T>C (p.Ser410Pro)
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.1257C>A (p.Tyr419Ter)
NM_153006.3(NAGS):c.125G>T (p.Gly42Val)
NM_153006.3(NAGS):c.1260C>A (p.Val420=)
NM_153006.3(NAGS):c.1263C>G (p.Ser421=) rs748046278
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+17del
NM_153006.3(NAGS):c.1268+17dup
NM_153006.3(NAGS):c.1268+1G>A rs1597866317
NM_153006.3(NAGS):c.1268+20A>C
NM_153006.3(NAGS):c.1268+2T>C rs202041339
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.1269-1G>A
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.1272C>A (p.Tyr424Ter)
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.1289T>C (p.Leu430Pro) rs104894605
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.1299G>C (p.Glu433Asp) rs104894607
NM_153006.3(NAGS):c.1302del (p.Val435fs)
NM_153006.3(NAGS):c.1307T>G (p.Leu436Arg) rs867444614
NM_153006.3(NAGS):c.1307dup (p.Thr439fs) rs730880303
NM_153006.3(NAGS):c.1308G>C (p.Leu436=)
NM_153006.3(NAGS):c.1313del (p.Gly438fs) rs1597866458
NM_153006.3(NAGS):c.1313dup (p.Thr439fs) rs1597866458
NM_153006.3(NAGS):c.1320G>C (p.Pro440=) rs2049112622
NM_153006.3(NAGS):c.1323C>G (p.Tyr441Ter) rs886042831
NM_153006.3(NAGS):c.1323C>T (p.Tyr441=)
NM_153006.3(NAGS):c.1324C>G (p.Leu442Val)
NM_153006.3(NAGS):c.1328del (p.Asp443fs)
NM_153006.3(NAGS):c.1347C>T (p.Ser449=) rs759863903
NM_153006.3(NAGS):c.134del (p.Pro45fs)
NM_153006.3(NAGS):c.135G>A (p.Pro45=) rs1390227455
NM_153006.3(NAGS):c.1368C>T (p.Ser456=)
NM_153006.3(NAGS):c.1369G>A (p.Gly457Ser)
NM_153006.3(NAGS):c.1378C>T (p.Leu460=) rs1272126077
NM_153006.3(NAGS):c.1380G>A (p.Leu460=)
NM_153006.3(NAGS):c.1389C>G (p.Cys463Trp)
NM_153006.3(NAGS):c.138G>A (p.Gly46=)
NM_153006.3(NAGS):c.138del (p.Arg47fs) rs2143978844
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.1414_1415del (p.Phe472fs) rs2143991359
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.1450T>C (p.Trp484Arg) rs104894606
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.1451G>A (p.Trp484Ter)
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.1452G>A (p.Trp484Ter)
NM_153006.3(NAGS):c.1464C>T (p.His488=)
NM_153006.3(NAGS):c.1465_1466del (p.His488_Ser489insTer)
NM_153006.3(NAGS):c.1470T>C (p.Asp490=) rs905032249
NM_153006.3(NAGS):c.147C>A (p.Leu49=)
NM_153006.3(NAGS):c.1489C>T (p.Gln497Ter)
NM_153006.3(NAGS):c.1491G>A (p.Gln497=) rs1377573272
NM_153006.3(NAGS):c.1503C>T (p.Phe501=)
NM_153006.3(NAGS):c.1505G>A (p.Trp502Ter)
NM_153006.3(NAGS):c.1515G>C (p.Leu505=) rs2049123033
NM_153006.3(NAGS):c.1524C>G (p.Ile508Met)
NM_153006.3(NAGS):c.1532C>G (p.Ser511Cys)
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.1552G>A (p.Ala518Thr)
NM_153006.3(NAGS):c.1554C>G (p.Ala518=) rs750912652
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.181G>C (p.Glu61Gln)
NM_153006.3(NAGS):c.189C>T (p.Tyr63=) rs1555620394
NM_153006.3(NAGS):c.190G>A (p.Ala64Thr) rs531005276
NM_153006.3(NAGS):c.193G>A (p.Gly65Ser)
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.205G>C (p.Val69Leu)
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.236C>T (p.Ser79Leu)
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.25G>A (p.Val9Ile) rs2049059364
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.289T>C (p.Ser97Pro)
NM_153006.3(NAGS):c.294C>A (p.Gly98=) rs1252906552
NM_153006.3(NAGS):c.299C>A (p.Ser100Ter) rs764150659
NM_153006.3(NAGS):c.2T>C (p.Met1Thr)
NM_153006.3(NAGS):c.306G>A (p.Val102=) rs2143979742
NM_153006.3(NAGS):c.310del (p.Arg104fs)
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.32G>A (p.Arg11Gln)
NM_153006.3(NAGS):c.330G>A (p.Leu110=)
NM_153006.3(NAGS):c.333C>T (p.Asn111=)
NM_153006.3(NAGS):c.334C>T (p.Gln112Ter)
NM_153006.3(NAGS):c.336G>A (p.Gln112=)
NM_153006.3(NAGS):c.339C>A (p.Cys113Ter)
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.343del (p.Ala115fs)
NM_153006.3(NAGS):c.34G>C (p.Ala12Pro) rs759453873
NM_153006.3(NAGS):c.34del (p.Ala12fs) rs2049059647
NM_153006.3(NAGS):c.353G>C (p.Gly118Ala)
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.361C>A (p.Arg121Ser) rs1024501740
NM_153006.3(NAGS):c.363C>A (p.Arg121=) rs1181064814
NM_153006.3(NAGS):c.368G>A (p.Trp123Ter) rs2143980093
NM_153006.3(NAGS):c.376C>T (p.Gln126Ter)
NM_153006.3(NAGS):c.381C>T (p.Phe127=) rs927052830
NM_153006.3(NAGS):c.382C>T (p.Gln128Ter)
NM_153006.3(NAGS):c.386C>G (p.Thr129Ser)
NM_153006.3(NAGS):c.390C>A (p.Cys130Ter) rs2143980228
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.424G>T (p.Glu142Ter) rs1282296585
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.427-218A>G rs886507459
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.458del (p.Gly153fs)
NM_153006.3(NAGS):c.459C>A (p.Gly153=)
NM_153006.3(NAGS):c.45A>C (p.Val15=)
NM_153006.3(NAGS):c.465C>A (p.Ser155=) rs535703833
NM_153006.3(NAGS):c.465C>T (p.Ser155=) rs535703833
NM_153006.3(NAGS):c.467G>A (p.Ser156Asn)
NM_153006.3(NAGS):c.46del (p.Ala16fs) rs2143978288
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.499A>G (p.Met167Val)
NM_153006.3(NAGS):c.504_505delinsTT (p.Met169Leu) rs2049077729
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.535dup (p.Ala179fs)
NM_153006.3(NAGS):c.536C>T (p.Ala179Val)
NM_153006.3(NAGS):c.540T>C (p.Pro180=) rs2143982962
NM_153006.3(NAGS):c.541A>G (p.Thr181Ala)
NM_153006.3(NAGS):c.544G>C (p.Ala182Pro)
NM_153006.3(NAGS):c.548C>T (p.Pro183Leu)
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.562dup (p.Ser188fs)
NM_153006.3(NAGS):c.569G>A (p.Trp190Ter) rs2049079486
NM_153006.3(NAGS):c.56T>C (p.Leu19Pro) rs1230176529
NM_153006.3(NAGS):c.570G>A (p.Trp190Ter) rs755257734
NM_153006.3(NAGS):c.581C>A (p.Ala194Glu)
NM_153006.3(NAGS):c.588G>A (p.Leu196=) rs2143983210
NM_153006.3(NAGS):c.591C>T (p.Ala197=)
NM_153006.3(NAGS):c.602A>C (p.Lys201Thr)
NM_153006.3(NAGS):c.606G>C (p.Val202=) rs2143983282
NM_153006.3(NAGS):c.611T>C (p.Val204Ala)
NM_153006.3(NAGS):c.618G>T (p.Ala206=) rs767680440
NM_153006.3(NAGS):c.622C>T (p.Arg208Ter) rs762205848
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.645_649del (p.Pro216fs)
NM_153006.3(NAGS):c.64C>T (p.Arg22Trp) rs756973889
NM_153006.3(NAGS):c.654dup (p.Gly219fs)
NM_153006.3(NAGS):c.65G>C (p.Arg22Pro)
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.696T>A (p.His232Gln) rs1268332465
NM_153006.3(NAGS):c.69_78del (p.Gly24fs) rs2049060332
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+1G>A rs2049082368
NM_153006.3(NAGS):c.701+20G>A
NM_153006.3(NAGS):c.701+2dup
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.702-1G>C
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.706G>A (p.Gly236Ser)
NM_153006.3(NAGS):c.710G>A (p.Gly237Asp)
NM_153006.3(NAGS):c.711C>T (p.Gly237=)
NM_153006.3(NAGS):c.719C>A (p.Ser240Ter)
NM_153006.3(NAGS):c.719C>T (p.Ser240Leu) rs781031762
NM_153006.3(NAGS):c.71G>A (p.Gly24Asp)
NM_153006.3(NAGS):c.720G>A (p.Ser240=)
NM_153006.3(NAGS):c.720G>T (p.Ser240=)
NM_153006.3(NAGS):c.721G>A (p.Val241Met) rs899402990
NM_153006.3(NAGS):c.724G>T (p.Glu242Ter) rs2143984711
NM_153006.3(NAGS):c.72C>T (p.Gly24=)
NM_153006.3(NAGS):c.735G>A (p.Leu245=) rs2143984745
NM_153006.3(NAGS):c.744G>T (p.Trp248Cys) rs1011767739
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>A (p.Cys259Ter) rs2049086224
NM_153006.3(NAGS):c.777C>T (p.Cys259=)
NM_153006.3(NAGS):c.778C>A (p.Pro260Thr)
NM_153006.3(NAGS):c.781A>G (p.Ile261Val)
NM_153006.3(NAGS):c.783C>T (p.Ile261=)
NM_153006.3(NAGS):c.784G>A (p.Gly262Arg) rs769924999
NM_153006.3(NAGS):c.785G>C (p.Gly262Ala)
NM_153006.3(NAGS):c.78G>T (p.Gly26=) rs2143978469
NM_153006.3(NAGS):c.796G>T (p.Ala266Ser)
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.823del (p.Leu275fs)
NM_153006.3(NAGS):c.831G>A (p.Val277=) rs779484535
NM_153006.3(NAGS):c.835G>A (p.Ala279Thr) rs121912591
NM_153006.3(NAGS):c.837G>T (p.Ala279=) rs778475082
NM_153006.3(NAGS):c.83C>T (p.Ala28Val)
NM_153006.3(NAGS):c.840G>A (p.Ser280=)
NM_153006.3(NAGS):c.840G>T (p.Ser280=)
NM_153006.3(NAGS):c.842del (p.Leu281fs)
NM_153006.3(NAGS):c.843G>A (p.Leu281=)
NM_153006.3(NAGS):c.852G>T (p.Ala284=)
NM_153006.3(NAGS):c.857G>A (p.Arg286Gln) rs2049088201
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.872T>A (p.Ile291Asn)
NM_153006.3(NAGS):c.876C>G (p.Phe292Leu)
NM_153006.3(NAGS):c.881A>G (p.Asn294Ser)
NM_153006.3(NAGS):c.885C>T (p.Asn295=)
NM_153006.3(NAGS):c.888A>T (p.Thr296=) rs2143985659
NM_153006.3(NAGS):c.893del (p.Gly298fs) rs2143985704
NM_153006.3(NAGS):c.89G>A (p.Arg30Lys)
NM_153006.3(NAGS):c.8C>G (p.Thr3Arg) rs958791517
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.904A>G (p.Ser302Gly) rs377702343
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+1G>T rs1319006991
NM_153006.3(NAGS):c.915+2T>C
NM_153006.3(NAGS):c.915+2T>G
NM_153006.3(NAGS):c.915+8C>G rs2143985981
NM_153006.3(NAGS):c.916-2A>T rs730880267
NM_153006.3(NAGS):c.918C>A (p.Val306=) rs2049093957
NM_153006.3(NAGS):c.918C>T (p.Val306=)
NM_153006.3(NAGS):c.92_119del (p.Leu31fs)
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.949G>A (p.Asp317Asn)
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.971G>A (p.Trp324Ter) rs104894604
NM_153006.3(NAGS):c.984A>C (p.Lys328Asn)
NM_153006.3(NAGS):c.998_1016del (p.Met333fs)
NM_153006.3(NAGS):c.9G>A (p.Thr3=)
NM_153006.3(NAGS):c.9G>T (p.Thr3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.