ClinVar Miner

List of variants in gene AGPS studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 510
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003659.4(AGPS):c.1362+79G>A rs12468046 0.87026
NM_003659.4(AGPS):c.996+206A>G rs2166557 0.86310
NM_003659.4(AGPS):c.442-325T>C rs6759567 0.86290
NM_003659.4(AGPS):c.996+92C>G rs1979059 0.86261
NM_003659.4(AGPS):c.638-256A>G rs6732250 0.85918
NM_003659.4(AGPS):c.442-64C>T rs3754989 0.85863
NM_003659.4(AGPS):c.1476-194T>C rs10497504 0.84131
NM_003659.4(AGPS):c.*1866A>G rs10930795 0.83889
NM_003659.4(AGPS):c.*4253C>A rs10803912 0.83746
NM_003659.4(AGPS):c.*4974T>C rs2293475 0.83675
NM_003659.4(AGPS):c.789+116C>T rs4893951 0.76456
NM_003659.4(AGPS):c.*3558C>T rs8941 0.72163
NM_003659.4(AGPS):c.1285+145C>T rs1348849 0.70626
NM_003659.4(AGPS):c.1285+306G>T rs1348848 0.70618
NM_003659.4(AGPS):c.1234-231G>C rs57681892 0.63595
NM_003659.4(AGPS):c.1234-232_1234-231insAAA rs60954001 0.63488
NM_003659.4(AGPS):c.996+101G>A rs1979058 0.63263
NM_003659.4(AGPS):c.1608-95T>A rs2364854 0.57249
NM_003659.4(AGPS):c.1106-213T>G rs10497506 0.13594
NM_003659.4(AGPS):c.637+275A>G rs3770002 0.10574
NM_003659.4(AGPS):c.351-194G>A rs76827775 0.09566
NM_003659.4(AGPS):c.1545+77T>A rs16865316 0.08893
NM_003659.4(AGPS):c.1856-16G>T rs3213945 0.08514
NM_003659.4(AGPS):c.1798-312T>G rs16865328 0.07686
NM_003659.4(AGPS):c.871-151A>G rs73976715 0.04595
NM_003659.4(AGPS):c.1234-39A>G rs16865309 0.04591
NM_003659.4(AGPS):c.260+324T>C rs75637652 0.03572
NM_003659.4(AGPS):c.870+227G>A rs78331242 0.03367
NM_003659.4(AGPS):c.1363-345C>G rs6736063 0.02869
NM_003659.4(AGPS):c.207A>G (p.Ala69=) rs34744592 0.02410
NM_003659.4(AGPS):c.996+148G>A rs183854039 0.01980
NM_003659.4(AGPS):c.260+62A>C rs114901772 0.01960
NM_003659.4(AGPS):c.261-5A>C rs73029113 0.01813
NM_003659.4(AGPS):c.350+95G>A rs73029114 0.01699
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) rs115580413 0.01496
NM_003659.4(AGPS):c.1475+33G>C rs77741011 0.01465
NM_003659.4(AGPS):c.1855+85T>C rs78501730 0.01017
NM_003659.4(AGPS):c.442-88G>A rs116237975 0.00922
NM_003659.4(AGPS):c.1105+339G>A rs75899902 0.00745
NM_003659.4(AGPS):c.1704G>A (p.Thr568=) rs36052691 0.00710
NM_003659.4(AGPS):c.1607+171G>A rs146275476 0.00708
NM_003659.4(AGPS):c.1234-228T>C rs182914669 0.00657
NM_003659.4(AGPS):c.351-198T>G rs111382938 0.00640
NM_003659.4(AGPS):c.441+77T>G rs148111927 0.00604
NM_003659.4(AGPS):c.261-175T>C rs138941129 0.00600
NM_003659.4(AGPS):c.1797+99C>T rs112767072 0.00583
NM_003659.4(AGPS):c.1363-18A>T rs1045457124 0.00569
NM_003659.4(AGPS):c.1362+44A>G rs114000397 0.00550
NM_003659.4(AGPS):c.996+257C>T rs536250370 0.00493
NM_003659.4(AGPS):c.350+215A>G rs189359754 0.00346
NM_003659.4(AGPS):c.1698-14T>C rs113523500 0.00324
NM_003659.4(AGPS):c.*2548A>G rs76966937 0.00233
NM_003659.4(AGPS):c.1233+5A>G rs370777451 0.00181
NM_003659.4(AGPS):c.1233+14T>A rs60463897 0.00154
NM_003659.4(AGPS):c.1086C>T (p.His362=) rs138280491 0.00072
NM_003659.4(AGPS):c.1380A>C (p.Pro460=) rs148418568 0.00062
NM_003659.4(AGPS):c.637+13C>T rs182602770 0.00060
NM_003659.4(AGPS):c.231G>A (p.Ala77=) rs576982787 0.00037
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
NM_003659.4(AGPS):c.951C>T (p.Arg317=) rs146526791 0.00021
NM_003659.4(AGPS):c.1632A>G (p.Val544=) rs201132634 0.00014
NM_003659.4(AGPS):c.1029T>C (p.Gly343=) rs368667324 0.00009
NM_003659.4(AGPS):c.637+18C>T rs201582276 0.00009
NM_003659.4(AGPS):c.1475+12A>G rs375684020 0.00008
NM_003659.4(AGPS):c.921C>T (p.Phe307=) rs138275695 0.00008
NM_003659.4(AGPS):c.1797+11A>G rs375071040 0.00007
NM_003659.4(AGPS):c.1856-15A>T rs747252484 0.00006
NM_003659.4(AGPS):c.1011A>G (p.Lys337=) rs200095312 0.00005
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=) rs980211710 0.00005
NM_003659.4(AGPS):c.1233+12A>T rs759104735 0.00004
NM_003659.4(AGPS):c.1335C>T (p.Asp445=) rs200039061 0.00004
NM_003659.4(AGPS):c.1569A>G (p.Val523=) rs150977180 0.00004
NM_003659.4(AGPS):c.1629T>C (p.Asn543=) rs144502265 0.00004
NM_003659.4(AGPS):c.1209C>T (p.Ala403=) rs761638262 0.00003
NM_003659.4(AGPS):c.1244C>T (p.Pro415Leu) rs144444120 0.00003
NM_003659.4(AGPS):c.1545+9T>A rs201702016 0.00003
NM_003659.4(AGPS):c.1812A>G (p.Glu604=) rs532887858 0.00003
NM_003659.4(AGPS):c.1855+6C>A rs772552134 0.00003
NM_003659.4(AGPS):c.435C>G (p.Thr145=) rs1201994217 0.00003
NM_003659.4(AGPS):c.465A>T (p.Thr155=) rs539922029 0.00003
NM_003659.4(AGPS):c.870G>A (p.Gln290=) rs534985206 0.00003
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_003659.4(AGPS):c.1323A>G (p.Thr441=) rs745804874 0.00002
NM_003659.4(AGPS):c.261-10T>A rs1039108067 0.00002
NM_003659.4(AGPS):c.522A>G (p.Ser174=) rs749533807 0.00002
NM_003659.4(AGPS):c.790-7G>T rs762968604 0.00002
NM_003659.4(AGPS):c.975C>A (p.Ile325=) rs758101960 0.00002
NM_003659.4(AGPS):c.997-9A>G rs761812245 0.00002
NM_003659.4(AGPS):c.1080C>T (p.Ile360=) rs941723367 0.00001
NM_003659.4(AGPS):c.1105+18T>C rs919034026 0.00001
NM_003659.4(AGPS):c.1106-4T>A rs367994868 0.00001
NM_003659.4(AGPS):c.1176A>G (p.Ser392=) rs1392174100 0.00001
NM_003659.4(AGPS):c.1238G>A (p.Cys413Tyr) rs377171234 0.00001
NM_003659.4(AGPS):c.1285+7A>G rs758823139 0.00001
NM_003659.4(AGPS):c.1286-8C>A rs1559072799 0.00001
NM_003659.4(AGPS):c.1293T>C (p.Ala431=) rs748992631 0.00001
NM_003659.4(AGPS):c.1350T>G (p.Phe450Leu) rs1337672529 0.00001
NM_003659.4(AGPS):c.1437A>G (p.Gln479=) rs753932510 0.00001
NM_003659.4(AGPS):c.1452G>A (p.Val484=) rs779051782 0.00001
NM_003659.4(AGPS):c.1500T>C (p.Asn500=) rs1454116093 0.00001
NM_003659.4(AGPS):c.1519C>T (p.Leu507=) rs761831871 0.00001
NM_003659.4(AGPS):c.1665G>A (p.Lys555=) rs759313804 0.00001
NM_003659.4(AGPS):c.1713C>T (p.Tyr571=) rs773126499 0.00001
NM_003659.4(AGPS):c.1773A>G (p.Pro591=) rs989190183 0.00001
NM_003659.4(AGPS):c.1826A>G (p.Asn609Ser) rs1265615518 0.00001
NM_003659.4(AGPS):c.1855+10T>C rs1372301224 0.00001
NM_003659.4(AGPS):c.1863G>A (p.Lys621=) rs776547747 0.00001
NM_003659.4(AGPS):c.1902C>T (p.Val634=) rs762316509 0.00001
NM_003659.4(AGPS):c.1908T>C (p.Phe636=) rs765895661 0.00001
NM_003659.4(AGPS):c.1935T>C (p.Tyr645=) rs977477211 0.00001
NM_003659.4(AGPS):c.324G>A (p.Lys108=) rs772533533 0.00001
NM_003659.4(AGPS):c.342T>C (p.Thr114=) rs933295904 0.00001
NM_003659.4(AGPS):c.351-5_351-4dup rs769202875 0.00001
NM_003659.4(AGPS):c.354C>T (p.Tyr118=) rs200594024 0.00001
NM_003659.4(AGPS):c.404C>T (p.Thr135Ile) rs920285676 0.00001
NM_003659.4(AGPS):c.441+18A>G rs752115173 0.00001
NM_003659.4(AGPS):c.534G>A (p.Glu178=) rs1369734581 0.00001
NM_003659.4(AGPS):c.549A>G (p.Val183=) rs774279058 0.00001
NM_003659.4(AGPS):c.555A>G (p.Arg185=) rs1219050214 0.00001
NM_003659.4(AGPS):c.563-9A>G rs757518400 0.00001
NM_003659.4(AGPS):c.588G>A (p.Leu196=) rs200503696 0.00001
NM_003659.4(AGPS):c.637+19G>A rs772951018 0.00001
NM_003659.4(AGPS):c.703A>G (p.Ile235Val) rs1405755703 0.00001
NM_003659.4(AGPS):c.771T>G (p.Ser257=) rs751310080 0.00001
NM_003659.4(AGPS):c.790-9T>C rs1371847346 0.00001
NM_003659.4(AGPS):c.837G>A (p.Glu279=) rs149103557 0.00001
NM_003659.4(AGPS):c.891T>C (p.Cys297=) rs755884284 0.00001
NM_003659.4(AGPS):c.949C>T (p.Arg317Cys) rs375775258 0.00001
NM_003659.4(AGPS):c.954A>T (p.Ala318=) rs745413439 0.00001
NM_003659.4(AGPS):c.987C>T (p.Ile329=) rs141468906 0.00001
NM_003659.4(AGPS):c.996+7A>G rs770061901 0.00001
NM_003659.4(AGPS):c.*118A>G rs187686783
NM_003659.4(AGPS):c.*1838AT[12] rs373957026
NM_003659.4(AGPS):c.*1880AT[7] rs59535792
NM_003659.4(AGPS):c.*3911AGTTTT[1] rs369534713
NM_003659.4(AGPS):c.*5023C>A rs148879448
NM_003659.4(AGPS):c.1017A>G (p.Val339=)
NM_003659.4(AGPS):c.1020A>G (p.Thr340=)
NM_003659.4(AGPS):c.1050A>G (p.Gln350=)
NM_003659.4(AGPS):c.1065A>T (p.Ser355=)
NM_003659.4(AGPS):c.1068A>G (p.Thr356=) rs2105675436
NM_003659.4(AGPS):c.1071C>A (p.Gly357=)
NM_003659.4(AGPS):c.1105+11C>T
NM_003659.4(AGPS):c.1105+12del
NM_003659.4(AGPS):c.1105+13G>A
NM_003659.4(AGPS):c.1105+9A>G rs2105675492
NM_003659.4(AGPS):c.1106-10T>C
NM_003659.4(AGPS):c.1106-11C>G
NM_003659.4(AGPS):c.1106-129_1106-120del rs140823121
NM_003659.4(AGPS):c.1106-18C>T
NM_003659.4(AGPS):c.1106-4dup
NM_003659.4(AGPS):c.1107A>C (p.Gly369=)
NM_003659.4(AGPS):c.1107A>G (p.Gly369=)
NM_003659.4(AGPS):c.1107A>T (p.Gly369=)
NM_003659.4(AGPS):c.1119A>G (p.Val373=) rs2105693469
NM_003659.4(AGPS):c.1125A>G (p.Thr375=)
NM_003659.4(AGPS):c.1134A>C (p.Thr378=)
NM_003659.4(AGPS):c.1140A>G (p.Lys380=) rs779325423
NM_003659.4(AGPS):c.1141A>G (p.Ile381Val) rs2105693491
NM_003659.4(AGPS):c.1152C>A (p.Val384=) rs529236041
NM_003659.4(AGPS):c.1158A>G (p.Glu386=)
NM_003659.4(AGPS):c.1161C>T (p.Tyr387=)
NM_003659.4(AGPS):c.1167G>A (p.Lys389=) rs779968864
NM_003659.4(AGPS):c.1170T>C (p.Tyr390=) rs2105693538
NM_003659.4(AGPS):c.1182T>G (p.Ala394=)
NM_003659.4(AGPS):c.1197A>G (p.Glu399=) rs2105693567
NM_003659.4(AGPS):c.1204G>A (p.Val402Ile)
NM_003659.4(AGPS):c.1224T>A (p.Ile408=)
NM_003659.4(AGPS):c.1224T>C (p.Ile408=)
NM_003659.4(AGPS):c.1229A>G (p.Lys410Arg) rs2105693629
NM_003659.4(AGPS):c.1233+13AT[7] rs200546003
NM_003659.4(AGPS):c.1233+13AT[8]
NM_003659.4(AGPS):c.1233+13_1233+14insATA
NM_003659.4(AGPS):c.1233+15A>G
NM_003659.4(AGPS):c.1233+16T>C
NM_003659.4(AGPS):c.1233+18T>C
NM_003659.4(AGPS):c.1233+19A>G
NM_003659.4(AGPS):c.1233+1G>A rs2105693633
NM_003659.4(AGPS):c.1234-15_1234-8del
NM_003659.4(AGPS):c.1234-20T>C
NM_003659.4(AGPS):c.1234-6A>C
NM_003659.4(AGPS):c.1248A>G (p.Ala416=) rs1688317424
NM_003659.4(AGPS):c.1248A>T (p.Ala416=)
NM_003659.4(AGPS):c.1260C>T (p.Leu420=) rs559000990
NM_003659.4(AGPS):c.1275G>A (p.Gln425=)
NM_003659.4(AGPS):c.1285+12G>A
NM_003659.4(AGPS):c.1285+12G>C
NM_003659.4(AGPS):c.1285+14G>A
NM_003659.4(AGPS):c.1285+16T>C
NM_003659.4(AGPS):c.1285+18A>G
NM_003659.4(AGPS):c.1285+7A>T
NM_003659.4(AGPS):c.1286-10C>G rs2105709878
NM_003659.4(AGPS):c.1286-12_1286-11del
NM_003659.4(AGPS):c.1286-14T>C
NM_003659.4(AGPS):c.1286-17C>G
NM_003659.4(AGPS):c.1286-19A>T
NM_003659.4(AGPS):c.1286-4T>C rs2105709895
NM_003659.4(AGPS):c.1286-5_1286-3del rs767459322
NM_003659.4(AGPS):c.1286-9T>C
NM_003659.4(AGPS):c.1290T>C (p.His430=)
NM_003659.4(AGPS):c.1311C>T (p.Ser437=) rs903278435
NM_003659.4(AGPS):c.1314T>C (p.Ser438=) rs2105709922
NM_003659.4(AGPS):c.1336G>A (p.Gly446Arg)
NM_003659.4(AGPS):c.1338A>G (p.Gly446=) rs2105709957
NM_003659.4(AGPS):c.1341A>G (p.Leu447=)
NM_003659.4(AGPS):c.1341A>T (p.Leu447Phe) rs1203139588
NM_003659.4(AGPS):c.1347G>A (p.Lys449=)
NM_003659.4(AGPS):c.1362+10T>G
NM_003659.4(AGPS):c.1362+12T>A
NM_003659.4(AGPS):c.1362+3A>G
NM_003659.4(AGPS):c.1362+7A>T rs2105710001
NM_003659.4(AGPS):c.1363-13T>C
NM_003659.4(AGPS):c.1363-16T>A
NM_003659.4(AGPS):c.1363-17T>A
NM_003659.4(AGPS):c.1363-18del rs761820462
NM_003659.4(AGPS):c.1363-19A>C
NM_003659.4(AGPS):c.1363-4G>T rs75596402
NM_003659.4(AGPS):c.1363-5T>G
NM_003659.4(AGPS):c.1363-5del rs371154486
NM_003659.4(AGPS):c.1363-5dup rs371154486
NM_003659.4(AGPS):c.1363-7T>G
NM_003659.4(AGPS):c.1377C>T (p.Asp459=)
NM_003659.4(AGPS):c.1378C>T (p.Pro460Ser)
NM_003659.4(AGPS):c.1382A>G (p.Asn461Ser) rs1688502144
NM_003659.4(AGPS):c.1386G>A (p.Gln462=) rs1688502263
NM_003659.4(AGPS):c.1401A>G (p.Thr467=)
NM_003659.4(AGPS):c.1405C>T (p.Leu469=) rs1688502732
NM_003659.4(AGPS):c.1407G>A (p.Leu469=)
NM_003659.4(AGPS):c.1418A>G (p.Asp473Gly) rs759052412
NM_003659.4(AGPS):c.1419T>C (p.Asp473=)
NM_003659.4(AGPS):c.1434T>A (p.Leu478=)
NM_003659.4(AGPS):c.1436A>G (p.Gln479Arg)
NM_003659.4(AGPS):c.1443A>G (p.Glu481=)
NM_003659.4(AGPS):c.1452G>T (p.Val484=)
NM_003659.4(AGPS):c.1455T>C (p.Tyr485=)
NM_003659.4(AGPS):c.1464T>A (p.Ala488=)
NM_003659.4(AGPS):c.1475+11A>C
NM_003659.4(AGPS):c.1475+17A>G
NM_003659.4(AGPS):c.1475+7C>A
NM_003659.4(AGPS):c.1476-13T>C
NM_003659.4(AGPS):c.1476-21_1476-20del rs140790212
NM_003659.4(AGPS):c.1476-238_1476-235del rs148907081
NM_003659.4(AGPS):c.1476-5T>C
NM_003659.4(AGPS):c.1476-7_1476-4del rs1688683221
NM_003659.4(AGPS):c.1476-9T>C
NM_003659.4(AGPS):c.1491A>C (p.Gly497=) rs1349146346
NM_003659.4(AGPS):c.1497T>C (p.Asp499=)
NM_003659.4(AGPS):c.1506G>A (p.Gln502=)
NM_003659.4(AGPS):c.1507A>C (p.Arg503=)
NM_003659.4(AGPS):c.1527T>C (p.Tyr509=)
NM_003659.4(AGPS):c.1536A>T (p.Ala512=) rs1036071531
NM_003659.4(AGPS):c.1545+125C>T rs77438433
NM_003659.4(AGPS):c.1545+13A>G rs1347684197
NM_003659.4(AGPS):c.1545+19C>A
NM_003659.4(AGPS):c.1545+19C>T
NM_003659.4(AGPS):c.1545+20C>G
NM_003659.4(AGPS):c.1545+20C>T
NM_003659.4(AGPS):c.1545+8A>G rs1688684918
NM_003659.4(AGPS):c.1545+9T>C rs201702016
NM_003659.4(AGPS):c.1546-159G>C rs76586354
NM_003659.4(AGPS):c.1546-16G>A
NM_003659.4(AGPS):c.1546-4A>T
NM_003659.4(AGPS):c.1546-5A>T
NM_003659.4(AGPS):c.1546-6del
NM_003659.4(AGPS):c.1551G>A (p.Leu517=)
NM_003659.4(AGPS):c.1566T>C (p.Tyr522=) rs1224416609
NM_003659.4(AGPS):c.1575A>G (p.Gly525=) rs2105720684
NM_003659.4(AGPS):c.1599T>C (p.Pro533=)
NM_003659.4(AGPS):c.1607+10A>G
NM_003659.4(AGPS):c.1607+12del
NM_003659.4(AGPS):c.1607+18G>C
NM_003659.4(AGPS):c.1607+19C>A
NM_003659.4(AGPS):c.1607+9T>C
NM_003659.4(AGPS):c.1608-16A>G
NM_003659.4(AGPS):c.1608-17C>G
NM_003659.4(AGPS):c.1608-17C>T
NM_003659.4(AGPS):c.1608-20A>G
NM_003659.4(AGPS):c.1608-3del
NM_003659.4(AGPS):c.1608-3dup rs772247132
NM_003659.4(AGPS):c.1608-5T>C
NM_003659.4(AGPS):c.1611G>A (p.Val537=)
NM_003659.4(AGPS):c.1617T>C (p.Asp539=)
NM_003659.4(AGPS):c.1624A>C (p.Arg542=) rs2105726576
NM_003659.4(AGPS):c.1632A>T (p.Val544=)
NM_003659.4(AGPS):c.1638A>G (p.Glu546=)
NM_003659.4(AGPS):c.1647A>G (p.Thr549=)
NM_003659.4(AGPS):c.1656C>T (p.Cys552=)
NM_003659.4(AGPS):c.1662G>A (p.Glu554=) rs771105736
NM_003659.4(AGPS):c.1689T>C (p.Ser563=)
NM_003659.4(AGPS):c.1692A>T (p.Thr564=)
NM_003659.4(AGPS):c.1697+16T>C
NM_003659.4(AGPS):c.1697+23_1697+28del
NM_003659.4(AGPS):c.1697+8T>G
NM_003659.4(AGPS):c.1698-10del
NM_003659.4(AGPS):c.1698-14del
NM_003659.4(AGPS):c.1698-8T>C rs2105733104
NM_003659.4(AGPS):c.1698-9_1698-6del
NM_003659.4(AGPS):c.1701G>T (p.Val567=) rs770153756
NM_003659.4(AGPS):c.1704G>T (p.Thr568=)
NM_003659.4(AGPS):c.1719A>G (p.Ala573=) rs771009367
NM_003659.4(AGPS):c.1719A>T (p.Ala573=) rs771009367
NM_003659.4(AGPS):c.1746C>G (p.Ala582=)
NM_003659.4(AGPS):c.1749T>C (p.Phe583=) rs2105733153
NM_003659.4(AGPS):c.1755C>T (p.Tyr585=) rs2105733165
NM_003659.4(AGPS):c.1758G>A (p.Arg586=)
NM_003659.4(AGPS):c.1764T>C (p.Ile588=)
NM_003659.4(AGPS):c.1767T>C (p.Ser589=) rs911262936
NM_003659.4(AGPS):c.1768G>C (p.Asp590His)
NM_003659.4(AGPS):c.1779C>A (p.Thr593=) rs753841033
NM_003659.4(AGPS):c.1779C>G (p.Thr593=) rs753841033
NM_003659.4(AGPS):c.1779C>T (p.Thr593=) rs753841033
NM_003659.4(AGPS):c.1788A>G (p.Glu596=) rs749991167
NM_003659.4(AGPS):c.1797+15C>T
NM_003659.4(AGPS):c.1797+17G>A
NM_003659.4(AGPS):c.1797+19A>G
NM_003659.4(AGPS):c.1798-10C>T
NM_003659.4(AGPS):c.1798-14G>C
NM_003659.4(AGPS):c.1798-17G>A
NM_003659.4(AGPS):c.1798-6del
NM_003659.4(AGPS):c.1798-8A>C
NM_003659.4(AGPS):c.1806T>C (p.Ala602=) rs2105735123
NM_003659.4(AGPS):c.1815A>C (p.Glu605Asp)
NM_003659.4(AGPS):c.1821T>C (p.Leu607=)
NM_003659.4(AGPS):c.1824T>C (p.Ala608=) rs2105735143
NM_003659.4(AGPS):c.1839G>A (p.Leu613=)
NM_003659.4(AGPS):c.1851T>C (p.His617=)
NM_003659.4(AGPS):c.1855+12T>G
NM_003659.4(AGPS):c.1856-16G>C
NM_003659.4(AGPS):c.1856-4C>G rs1574042167
NM_003659.4(AGPS):c.1872G>A (p.Lys624=) rs1485158970
NM_003659.4(AGPS):c.1875A>G (p.Gln625=) rs2079199951
NM_003659.4(AGPS):c.1884G>A (p.Lys628=) rs2105746869
NM_003659.4(AGPS):c.1896T>G (p.Ser632=)
NM_003659.4(AGPS):c.1917G>A (p.Leu639=) rs2105746896
NM_003659.4(AGPS):c.1923T>C (p.Ser641=)
NM_003659.4(AGPS):c.1946A>G (p.Asn649Ser)
NM_003659.4(AGPS):c.1950C>T (p.Asn650=) rs2105746932
NM_003659.4(AGPS):c.204G>C (p.Thr68=) rs1010744857
NM_003659.4(AGPS):c.208G>A (p.Ala70Thr)
NM_003659.4(AGPS):c.213C>T (p.Pro71=)
NM_003659.4(AGPS):c.225C>G (p.Pro75=) rs1685064821
NM_003659.4(AGPS):c.225C>T (p.Pro75=)
NM_003659.4(AGPS):c.228C>G (p.Ala76=)
NM_003659.4(AGPS):c.228C>T (p.Ala76=) rs1375681821
NM_003659.4(AGPS):c.231G>T (p.Ala77=)
NM_003659.4(AGPS):c.240G>C (p.Ser80=)
NM_003659.4(AGPS):c.240G>T (p.Ser80=) rs1685066171
NM_003659.4(AGPS):c.243C>T (p.Gly81=)
NM_003659.4(AGPS):c.246C>A (p.Thr82=) rs2105576457
NM_003659.4(AGPS):c.258G>A (p.Lys86=) rs1685066744
NM_003659.4(AGPS):c.260+10G>A rs761606701
NM_003659.4(AGPS):c.260+10G>C rs761606701
NM_003659.4(AGPS):c.260+15G>A
NM_003659.4(AGPS):c.260+7A>G
NM_003659.4(AGPS):c.260+8G>T
NM_003659.4(AGPS):c.260+9C>T rs2105576480
NM_003659.4(AGPS):c.261-18A>G
NM_003659.4(AGPS):c.261-4C>T
NM_003659.4(AGPS):c.261-6C>T
NM_003659.4(AGPS):c.261-8C>T
NM_003659.4(AGPS):c.285A>G (p.Gly95=)
NM_003659.4(AGPS):c.297T>C (p.Asn99=)
NM_003659.4(AGPS):c.303T>C (p.Ser101=)
NM_003659.4(AGPS):c.309C>T (p.Phe103=)
NM_003659.4(AGPS):c.327C>T (p.Gly109=) rs2105609313
NM_003659.4(AGPS):c.333T>C (p.Ile111=)
NM_003659.4(AGPS):c.345G>A (p.Gly115=)
NM_003659.4(AGPS):c.345G>C (p.Gly115=)
NM_003659.4(AGPS):c.350+10G>T
NM_003659.4(AGPS):c.350+203TA[6] rs199979157
NM_003659.4(AGPS):c.350+273dup rs141001631
NM_003659.4(AGPS):c.350+7C>G rs2105609337
NM_003659.4(AGPS):c.350+7del
NM_003659.4(AGPS):c.350+8T>A
NM_003659.4(AGPS):c.350+9G>A
NM_003659.4(AGPS):c.351-10T>G
NM_003659.4(AGPS):c.351-15T>G
NM_003659.4(AGPS):c.351-9G>T
NM_003659.4(AGPS):c.358C>G (p.Leu120Val)
NM_003659.4(AGPS):c.360T>C (p.Leu120=) rs780475043
NM_003659.4(AGPS):c.372T>A (p.Gly124=) rs1686334785
NM_003659.4(AGPS):c.372T>C (p.Gly124=)
NM_003659.4(AGPS):c.396C>T (p.Ile132=) rs1168409268
NM_003659.4(AGPS):c.405C>A (p.Thr135=) rs1332577384
NM_003659.4(AGPS):c.405C>G (p.Thr135=) rs1332577384
NM_003659.4(AGPS):c.405C>T (p.Thr135=) rs1332577384
NM_003659.4(AGPS):c.411A>G (p.Gly137=)
NM_003659.4(AGPS):c.417T>C (p.Asn139=)
NM_003659.4(AGPS):c.420G>A (p.Val140=)
NM_003659.4(AGPS):c.425A>G (p.His142Arg) rs144836649
NM_003659.4(AGPS):c.426T>C (p.His142=) rs774373023
NM_003659.4(AGPS):c.441+10C>T rs1262908888
NM_003659.4(AGPS):c.441+12A>G
NM_003659.4(AGPS):c.441+19T>A
NM_003659.4(AGPS):c.441+19_441+21del
NM_003659.4(AGPS):c.441+20T>C
NM_003659.4(AGPS):c.442-16C>G
NM_003659.4(AGPS):c.444A>G (p.Ala148=)
NM_003659.4(AGPS):c.449T>G (p.Leu150Ter)
NM_003659.4(AGPS):c.457A>C (p.Ser153Arg)
NM_003659.4(AGPS):c.474T>A (p.Ser158=)
NM_003659.4(AGPS):c.474T>C (p.Ser158=)
NM_003659.4(AGPS):c.477T>A (p.Val159=)
NM_003659.4(AGPS):c.480A>G (p.Val160=)
NM_003659.4(AGPS):c.510A>G (p.Glu170=)
NM_003659.4(AGPS):c.513T>G (p.Thr171=) rs1173246473
NM_003659.4(AGPS):c.516T>C (p.Asn172=)
NM_003659.4(AGPS):c.537A>G (p.Ala179=) rs1385147876
NM_003659.4(AGPS):c.544C>A (p.Arg182=) rs1686426425
NM_003659.4(AGPS):c.544C>T (p.Arg182Ter) rs1686426425
NM_003659.4(AGPS):c.546A>T (p.Arg182=) rs2105630589
NM_003659.4(AGPS):c.562+10T>A
NM_003659.4(AGPS):c.562+12T>A
NM_003659.4(AGPS):c.562+13A>G
NM_003659.4(AGPS):c.562+19G>A
NM_003659.4(AGPS):c.562+8A>T
NM_003659.4(AGPS):c.562+9_562+13del rs2105630622
NM_003659.4(AGPS):c.563-10del rs3834134
NM_003659.4(AGPS):c.563-12dup rs1686431712
NM_003659.4(AGPS):c.563-13A>G
NM_003659.4(AGPS):c.563-14T>A
NM_003659.4(AGPS):c.563-14T>C
NM_003659.4(AGPS):c.563-15T>G
NM_003659.4(AGPS):c.563-8C>A rs2105630811
NM_003659.4(AGPS):c.563-9A>T rs757518400
NM_003659.4(AGPS):c.564T>C (p.Gly188=)
NM_003659.4(AGPS):c.567T>C (p.His189=) rs745598152
NM_003659.4(AGPS):c.573T>C (p.Leu191=)
NM_003659.4(AGPS):c.591C>T (p.Leu197=)
NM_003659.4(AGPS):c.597A>G (p.Glu199=)
NM_003659.4(AGPS):c.615T>A (p.Ile205=)
NM_003659.4(AGPS):c.637+10C>T
NM_003659.4(AGPS):c.637+11C>T
NM_003659.4(AGPS):c.637+15C>T
NM_003659.4(AGPS):c.637+20T>C
NM_003659.4(AGPS):c.637+9T>C
NM_003659.4(AGPS):c.638-5A>C rs2105636814
NM_003659.4(AGPS):c.638-6C>T
NM_003659.4(AGPS):c.638-7T>C rs886044553
NM_003659.4(AGPS):c.638-7del
NM_003659.4(AGPS):c.638-9T>C
NM_003659.4(AGPS):c.642C>T (p.Cys214=) rs1686585383
NM_003659.4(AGPS):c.670C>T (p.Leu224=) rs2105636840
NM_003659.4(AGPS):c.672A>G (p.Leu224=)
NM_003659.4(AGPS):c.680A>G (p.Lys227Arg)
NM_003659.4(AGPS):c.681A>G (p.Lys227=)
NM_003659.4(AGPS):c.684T>C (p.Tyr228=) rs1156911145
NM_003659.4(AGPS):c.693T>C (p.Cys231=)
NM_003659.4(AGPS):c.709+10G>A
NM_003659.4(AGPS):c.709+10G>T
NM_003659.4(AGPS):c.709+13C>G
NM_003659.4(AGPS):c.709+14C>T
NM_003659.4(AGPS):c.709+19G>T
NM_003659.4(AGPS):c.710-10A>C rs1490265815
NM_003659.4(AGPS):c.710-10A>G
NM_003659.4(AGPS):c.711A>G (p.Gly237=) rs2105638507
NM_003659.4(AGPS):c.712G>A (p.Gly238Arg) rs1686634518
NM_003659.4(AGPS):c.729T>C (p.Tyr243=) rs2105638546
NM_003659.4(AGPS):c.732C>G (p.Gly244=)
NM_003659.4(AGPS):c.733C>T (p.Leu245=) rs545636352
NM_003659.4(AGPS):c.735G>A (p.Leu245=) rs952911907
NM_003659.4(AGPS):c.735G>C (p.Leu245=)
NM_003659.4(AGPS):c.735G>T (p.Leu245=)
NM_003659.4(AGPS):c.740G>T (p.Cys247Phe)
NM_003659.4(AGPS):c.783A>C (p.Ser261=)
NM_003659.4(AGPS):c.789+17G>C
NM_003659.4(AGPS):c.789+19T>C
NM_003659.4(AGPS):c.790-6C>T rs2105642854
NM_003659.4(AGPS):c.790-8T>C rs1686744448
NM_003659.4(AGPS):c.794G>A (p.Arg265Gln)
NM_003659.4(AGPS):c.801C>T (p.Leu267=)
NM_003659.4(AGPS):c.820T>C (p.Leu274=)
NM_003659.4(AGPS):c.831T>C (p.His277=) rs1559049395
NM_003659.4(AGPS):c.852A>G (p.Gly284=)
NM_003659.4(AGPS):c.867A>G (p.Arg289=)
NM_003659.4(AGPS):c.870+12A>G
NM_003659.4(AGPS):c.870+13T>C
NM_003659.4(AGPS):c.870+19T>A
NM_003659.4(AGPS):c.870+7T>C
NM_003659.4(AGPS):c.871-129del rs56895184
NM_003659.4(AGPS):c.871-129dup rs56895184
NM_003659.4(AGPS):c.871-15del rs778805499
NM_003659.4(AGPS):c.871-16A>G rs752510426
NM_003659.4(AGPS):c.871-16A>T
NM_003659.4(AGPS):c.871-20G>A
NM_003659.4(AGPS):c.871-9G>A rs1687303922
NM_003659.4(AGPS):c.873T>C (p.Leu291=) rs71421600
NM_003659.4(AGPS):c.873T>G (p.Leu291=) rs71421600
NM_003659.4(AGPS):c.895G>A (p.Gly299Ser) rs1181801479
NM_003659.4(AGPS):c.897T>G (p.Gly299=)
NM_003659.4(AGPS):c.909T>C (p.Asp303=) rs2105666249
NM_003659.4(AGPS):c.915G>A (p.Leu305=) rs2105666256
NM_003659.4(AGPS):c.918G>A (p.Glu306=)
NM_003659.4(AGPS):c.927T>C (p.Thr309=) rs2105666286
NM_003659.4(AGPS):c.930A>C (p.Val310=) rs773876146
NM_003659.4(AGPS):c.936A>T (p.Gly312=)
NM_003659.4(AGPS):c.954A>G (p.Ala318=)
NM_003659.4(AGPS):c.966G>A (p.Lys322=) rs2105666355
NM_003659.4(AGPS):c.981C>A (p.Gly327=)
NM_003659.4(AGPS):c.981C>G (p.Gly327=)
NM_003659.4(AGPS):c.990G>A (p.Glu330=) rs2105666380
NM_003659.4(AGPS):c.996+14T>A
NM_003659.4(AGPS):c.996+14T>C
NM_003659.4(AGPS):c.996+8T>A
NM_003659.4(AGPS):c.996+8T>C
NM_003659.4(AGPS):c.997-11G>T
NM_003659.4(AGPS):c.997-15T>C
NM_003659.4(AGPS):c.997-18G>A
NM_003659.4(AGPS):c.997-19C>T
NM_003659.4(AGPS):c.997-6A>G

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.