ClinVar Miner

List of variants in gene JAG1 reported as uncertain significance for Alagille syndrome due to a JAG1 point mutation

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 422
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met) rs368438076 0.00012
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694 0.00011
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu) rs1026004197 0.00006
NM_000214.3(JAG1):c.1049G>A (p.Ser350Asn) rs199922494 0.00004
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu) rs770377023 0.00004
NM_000214.3(JAG1):c.439+9C>T rs374350782 0.00004
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175 0.00003
NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser) rs372558458 0.00002
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser) rs1327002160 0.00002
NM_000214.3(JAG1):c.2200G>A (p.Gly734Ser) rs199561320 0.00002
NM_000214.3(JAG1):c.2227+5C>G rs371127863 0.00002
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) rs1308346607 0.00002
NM_000214.3(JAG1):c.262G>T (p.Ala88Ser) rs1368255658 0.00002
NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys) rs753161584 0.00002
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile) rs139934091 0.00002
NM_000214.3(JAG1):c.3261G>A (p.Thr1087=) rs770197804 0.00002
NM_000214.3(JAG1):c.34C>T (p.Arg12Cys) rs1452242699 0.00002
NM_000214.3(JAG1):c.1057G>C (p.Glu353Gln) rs1600185499 0.00001
NM_000214.3(JAG1):c.1064C>T (p.Ser355Phe) rs1235681626 0.00001
NM_000214.3(JAG1):c.1119A>G (p.Thr373=) rs762382192 0.00001
NM_000214.3(JAG1):c.1153C>T (p.His385Tyr) rs374935659 0.00001
NM_000214.3(JAG1):c.11C>T (p.Pro4Leu) rs1568807505 0.00001
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met) rs773039210 0.00001
NM_000214.3(JAG1):c.1234+3A>G rs1209302268 0.00001
NM_000214.3(JAG1):c.1297A>G (p.Ser433Gly) rs1459652772 0.00001
NM_000214.3(JAG1):c.1346T>A (p.Ile449Lys) rs1465136716 0.00001
NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln) rs558315798 0.00001
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00001
NM_000214.3(JAG1):c.151A>G (p.Asn51Asp) rs2067507706 0.00001
NM_000214.3(JAG1):c.1579G>A (p.Asp527Asn) rs934594487 0.00001
NM_000214.3(JAG1):c.1606A>C (p.Asn536His) rs1176315498 0.00001
NM_000214.3(JAG1):c.1616A>G (p.Gln539Arg) rs2067321448 0.00001
NM_000214.3(JAG1):c.1625A>G (p.Asn542Ser) rs1221893646 0.00001
NM_000214.3(JAG1):c.1702C>T (p.Arg568Cys) rs748384232 0.00001
NM_000214.3(JAG1):c.1720+5C>T rs757230587 0.00001
NM_000214.3(JAG1):c.175C>T (p.Arg59Trp) rs2067507466 0.00001
NM_000214.3(JAG1):c.1859G>C (p.Gly620Ala) rs752105789 0.00001
NM_000214.3(JAG1):c.1921G>A (p.Gly641Ser) rs758994613 0.00001
NM_000214.3(JAG1):c.2114G>A (p.Arg705His) rs1320720578 0.00001
NM_000214.3(JAG1):c.2120G>A (p.Ser707Asn) rs2122603091 0.00001
NM_000214.3(JAG1):c.2147A>G (p.Asn716Ser) rs765705984 0.00001
NM_000214.3(JAG1):c.2234A>C (p.Asn745Thr) rs1314917198 0.00001
NM_000214.3(JAG1):c.2342A>G (p.Gln781Arg) rs2067296582 0.00001
NM_000214.3(JAG1):c.2344+7G>A rs372877582 0.00001
NM_000214.3(JAG1):c.2344A>G (p.Asn782Asp) rs1197697440 0.00001
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp) rs1458651228 0.00001
NM_000214.3(JAG1):c.2414G>A (p.Arg805Gln) rs774372899 0.00001
NM_000214.3(JAG1):c.2419G>A (p.Glu807Lys) rs564566567 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000214.3(JAG1):c.2506G>A (p.Val836Met) rs1429547453 0.00001
NM_000214.3(JAG1):c.2519A>G (p.Asn840Ser) rs1568792705 0.00001
NM_000214.3(JAG1):c.2557G>A (p.Ala853Thr) rs967515336 0.00001
NM_000214.3(JAG1):c.2672C>T (p.Ala891Val) rs2067274084 0.00001
NM_000214.3(JAG1):c.2723A>G (p.His908Arg) rs150243935 0.00001
NM_000214.3(JAG1):c.2876C>T (p.Ala959Val) rs747802983 0.00001
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val) rs773974344 0.00001
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp) rs1057516205 0.00001
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile) rs2067505956 0.00001
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu) rs537450546 0.00001
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp) rs537986153 0.00001
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln) rs2067258057 0.00001
NM_000214.3(JAG1):c.3293A>G (p.Lys1098Arg) rs2067257938 0.00001
NM_000214.3(JAG1):c.3311A>T (p.His1104Leu) rs1788979891 0.00001
NM_000214.3(JAG1):c.3317C>G (p.Ala1106Gly) rs1194532829 0.00001
NM_000214.3(JAG1):c.3320C>T (p.Ser1107Phe) rs142294152 0.00001
NM_000214.3(JAG1):c.3377T>C (p.Ile1126Thr) rs2067257283 0.00001
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys) rs1362853052 0.00001
NM_000214.3(JAG1):c.3455A>C (p.His1152Pro) rs2067256686 0.00001
NM_000214.3(JAG1):c.3476A>T (p.Asp1159Val) rs367992928 0.00001
NM_000214.3(JAG1):c.3530C>T (p.Thr1177Met) rs533237399 0.00001
NM_000214.3(JAG1):c.3544G>A (p.Glu1182Lys) rs1479790705 0.00001
NM_000214.3(JAG1):c.3554C>T (p.Pro1185Leu) rs1177139139 0.00001
NM_000214.3(JAG1):c.3563G>C (p.Gly1188Ala) rs766368457 0.00001
NM_000214.3(JAG1):c.3620G>A (p.Ser1207Asn) rs1431420265 0.00001
NM_000214.3(JAG1):c.3623C>T (p.Ala1208Val) rs2122592834 0.00001
NM_000214.3(JAG1):c.387G>A (p.Pro129=) rs766008628 0.00001
NM_000214.3(JAG1):c.389G>A (p.Arg130Lys) rs1409103181 0.00001
NM_000214.3(JAG1):c.418G>A (p.Asp140Asn) rs1456733889 0.00001
NM_000214.3(JAG1):c.422C>A (p.Ser141Tyr) rs1204218385 0.00001
NM_000214.3(JAG1):c.442C>T (p.Pro148Ser) rs1355919795 0.00001
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly) rs1229047867 0.00001
NM_000214.3(JAG1):c.4C>G (p.Arg2Gly) rs984916696 0.00001
NM_000214.3(JAG1):c.568T>G (p.Tyr190Asp) rs1242543124 0.00001
NM_000214.3(JAG1):c.694+3A>G rs769581869 0.00001
NM_000214.3(JAG1):c.694+4T>C rs944996400 0.00001
NM_000214.3(JAG1):c.704G>A (p.Arg235Gln) rs1245693208 0.00001
NM_000214.3(JAG1):c.722A>G (p.Lys241Arg) rs1405610551 0.00001
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln) rs1265642949 0.00001
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser) rs1412480153 0.00001
NM_000214.3(JAG1):c.994A>G (p.Asn332Asp) rs562158374 0.00001
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.1025C>G (p.Ser342Cys) rs2514520790
NM_000214.3(JAG1):c.1059G>C (p.Glu353Asp) rs2514520745
NM_000214.3(JAG1):c.1064C>A (p.Ser355Tyr) rs1235681626
NM_000214.3(JAG1):c.1066C>A (p.Leu356Met) rs2122613611
NM_000214.3(JAG1):c.1083G>T (p.Glu361Asp) rs753419479
NM_000214.3(JAG1):c.10C>T (p.Pro4Ser) rs2514539096
NM_000214.3(JAG1):c.1120A>G (p.Asn374Asp)
NM_000214.3(JAG1):c.1123A>G (p.Ile375Val) rs2122611687
NM_000214.3(JAG1):c.1131C>A (p.Asp377Glu) rs2514519253
NM_000214.3(JAG1):c.1155C>A (p.His385Gln) rs531019589
NM_000214.3(JAG1):c.1160G>A (p.Gly387Asp) rs1376630188
NM_000214.3(JAG1):c.1165T>C (p.Cys389Arg)
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn) rs2067508041
NM_000214.3(JAG1):c.1177G>C (p.Val393Leu) rs1330216708
NM_000214.3(JAG1):c.1202C>T (p.Pro401Leu) rs2514519154
NM_000214.3(JAG1):c.1205C>A (p.Pro402Gln) rs144204614
NM_000214.3(JAG1):c.1216G>A (p.Gly406Arg) rs2067336534
NM_000214.3(JAG1):c.1236T>A (p.Asp412Glu) rs1568796947
NM_000214.3(JAG1):c.1249G>A (p.Glu417Lys) rs2514518403
NM_000214.3(JAG1):c.1253C>A (p.Ala418Asp)
NM_000214.3(JAG1):c.1258C>A (p.Pro420Thr) rs1477546681
NM_000214.3(JAG1):c.1269C>A (p.Asn423Lys) rs200498563
NM_000214.3(JAG1):c.126G>A (p.Met42Ile)
NM_000214.3(JAG1):c.1277C>T (p.Ser426Phe) rs958409504
NM_000214.3(JAG1):c.1295C>G (p.Ala432Gly) rs2514518364
NM_000214.3(JAG1):c.1306T>C (p.Cys436Arg) rs2122610484
NM_000214.3(JAG1):c.1308_1325del (p.Cys436_Gly441del) rs2067332008
NM_000214.3(JAG1):c.1309G>C (p.Asp437His) rs758876727
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser) rs1187579730
NM_000214.3(JAG1):c.1322G>A (p.Gly441Asp) rs2067332021
NM_000214.3(JAG1):c.1326G>T (p.Trp442Cys) rs794726974
NM_000214.3(JAG1):c.1345A>G (p.Ile449Val) rs2122610344
NM_000214.3(JAG1):c.134_154del (p.Val45_Asn51del) rs1345611817
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) rs1178459436
NM_000214.3(JAG1):c.1357G>A (p.Asp453Asn) rs1600184118
NM_000214.3(JAG1):c.1370A>G (p.Gln457Arg) rs1458033263
NM_000214.3(JAG1):c.1372T>C (p.Cys458Arg) rs2514517850
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp) rs937263997
NM_000214.3(JAG1):c.1396-3T>C rs2514517350
NM_000214.3(JAG1):c.139G>C (p.Gly47Arg) rs2122644822
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del) rs754284753
NM_000214.3(JAG1):c.1426C>A (p.Pro476Thr) rs2514517293
NM_000214.3(JAG1):c.1442G>A (p.Gly481Asp) rs753841056
NM_000214.3(JAG1):c.1501C>G (p.His501Asp)
NM_000214.3(JAG1):c.1517T>G (p.Ile506Ser) rs2514517173
NM_000214.3(JAG1):c.1520A>G (p.Asn507Ser)
NM_000214.3(JAG1):c.1521C>G (p.Asn507Lys) rs2067324770
NM_000214.3(JAG1):c.1540C>G (p.Pro514Ala) rs2514517151
NM_000214.3(JAG1):c.1558A>C (p.Asn520His)
NM_000214.3(JAG1):c.1564T>C (p.Cys522Arg) rs2514517124
NM_000214.3(JAG1):c.1570-3C>A rs1298304802
NM_000214.3(JAG1):c.1579G>T (p.Asp527Tyr) rs934594487
NM_000214.3(JAG1):c.1582T>G (p.Tyr528Asp) rs2122607889
NM_000214.3(JAG1):c.1608C>G (p.Asn536Lys) rs200648453
NM_000214.3(JAG1):c.1610G>T (p.Gly537Val)
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala) rs2514516623
NM_000214.3(JAG1):c.1654C>T (p.Pro552Ser) rs2514516623
NM_000214.3(JAG1):c.1657G>A (p.Glu553Lys) rs759763539
NM_000214.3(JAG1):c.165C>G (p.Cys55Trp)
NM_000214.3(JAG1):c.1693G>A (p.Asp565Asn) rs2514516564
NM_000214.3(JAG1):c.1696C>G (p.His566Asp) rs927278875
NM_000214.3(JAG1):c.1696C>T (p.His566Tyr)
NM_000214.3(JAG1):c.1709C>T (p.Thr570Ile) rs1199378103
NM_000214.3(JAG1):c.1714T>C (p.Cys572Arg) rs2514516526
NM_000214.3(JAG1):c.1720+3A>G rs1555828541
NM_000214.3(JAG1):c.1720+4C>T
NM_000214.3(JAG1):c.1724T>C (p.Ile575Thr) rs2067314756
NM_000214.3(JAG1):c.1731C>A (p.Ser577Arg)
NM_000214.3(JAG1):c.1739T>A (p.Val580Glu) rs2514515723
NM_000214.3(JAG1):c.1744A>G (p.Met582Val) rs2067314648
NM_000214.3(JAG1):c.1762C>T (p.Pro588Ser) rs1321273663
NM_000214.3(JAG1):c.1806C>A (p.His602Gln)
NM_000214.3(JAG1):c.1806C>G (p.His602Gln) rs764290237
NM_000214.3(JAG1):c.1807G>A (p.Gly603Arg)
NM_000214.3(JAG1):c.1832G>T (p.Gly611Val) rs2122606183
NM_000214.3(JAG1):c.184G>C (p.Gly62Arg) rs752774309
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg) rs1009426924
NM_000214.3(JAG1):c.1859G>T (p.Gly620Val) rs752105789
NM_000214.3(JAG1):c.1865C>A (p.Thr622Lys)
NM_000214.3(JAG1):c.1886-3T>C
NM_000214.3(JAG1):c.1898G>A (p.Cys633Tyr) rs2122604573
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp) rs1261301855
NM_000214.3(JAG1):c.191_192delinsAG (p.Arg64Gln) rs2122644702
NM_000214.3(JAG1):c.194A>G (p.Lys65Arg) rs2514537990
NM_000214.3(JAG1):c.1951T>C (p.Tyr651His) rs2122604469
NM_000214.3(JAG1):c.1963T>C (p.Cys655Arg) rs2514514439
NM_000214.3(JAG1):c.1984G>C (p.Ala662Pro) rs763048289
NM_000214.3(JAG1):c.1984G>T (p.Ala662Ser)
NM_000214.3(JAG1):c.1997C>T (p.Thr666Ile) rs2122604394
NM_000214.3(JAG1):c.1998C>T (p.Thr666=) rs1383309484
NM_000214.3(JAG1):c.199A>G (p.Thr67Ala) rs2514537979
NM_000214.3(JAG1):c.200C>G (p.Thr67Ser) rs2514537977
NM_000214.3(JAG1):c.2024C>T (p.Pro675Leu) rs2514513699
NM_000214.3(JAG1):c.2030A>C (p.His677Pro) rs2514513684
NM_000214.3(JAG1):c.203G>A (p.Arg68His)
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn) rs933125751
NM_000214.3(JAG1):c.2051A>G (p.Asp684Gly) rs2514513655
NM_000214.3(JAG1):c.2064C>G (p.Asp688Glu) rs2122603442
NM_000214.3(JAG1):c.2072G>A (p.Cys691Tyr) rs1555828246
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg) rs1568794319
NM_000214.3(JAG1):c.2078G>C (p.Cys693Ser) rs566563238
NM_000214.3(JAG1):c.2087G>C (p.Gly696Ala) rs780243244
NM_000214.3(JAG1):c.20G>A (p.Arg7His) rs2514539072
NM_000214.3(JAG1):c.2101A>G (p.Thr701Ala)
NM_000214.3(JAG1):c.2113+5G>A rs886044704
NM_000214.3(JAG1):c.2117A>T (p.Asp706Val)
NM_000214.3(JAG1):c.2123A>C (p.Gln708Pro) rs2514513395
NM_000214.3(JAG1):c.2140T>C (p.Cys714Arg) rs2514513364
NM_000214.3(JAG1):c.2141G>A (p.Cys714Tyr) rs2067300040
NM_000214.3(JAG1):c.2143A>C (p.Asn715His) rs2514513360
NM_000214.3(JAG1):c.2161T>A (p.Tyr721Asn) rs2514513332
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg) rs2067299833
NM_000214.3(JAG1):c.2173G>T (p.Asp725Tyr) rs2122602965
NM_000214.3(JAG1):c.2174A>G (p.Asp725Gly) rs2514513315
NM_000214.3(JAG1):c.2201G>A (p.Gly734Asp) rs2122602901
NM_000214.3(JAG1):c.2228-13T>C rs1163165774
NM_000214.3(JAG1):c.2228-3T>G rs1244716853
NM_000214.3(JAG1):c.2228-6T>C rs755337222
NM_000214.3(JAG1):c.2237G>A (p.Ser746Asn) rs2122602515
NM_000214.3(JAG1):c.2246T>G (p.Leu749Arg)
NM_000214.3(JAG1):c.224T>C (p.Phe75Ser) rs2122644646
NM_000214.3(JAG1):c.2254C>G (p.Pro752Ala) rs2514512995
NM_000214.3(JAG1):c.2258G>T (p.Cys753Phe) rs2122602473
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu) rs1600196460
NM_000214.3(JAG1):c.226A>C (p.Lys76Gln)
NM_000214.3(JAG1):c.2270G>A (p.Gly757Asp) rs2514512969
NM_000214.3(JAG1):c.2283C>T (p.Val761=) rs2514512944
NM_000214.3(JAG1):c.2288G>T (p.Gly763Val) rs2514512938
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr) rs149949294
NM_000214.3(JAG1):c.2319C>T (p.Gly773=) rs2122602306
NM_000214.3(JAG1):c.2329C>A (p.Pro777Thr) rs202063628
NM_000214.3(JAG1):c.2344+6T>C rs2067296518
NM_000214.3(JAG1):c.2372+3_2372+6del rs2067293629
NM_000214.3(JAG1):c.2382C>A (p.Ser794Arg) rs56225585
NM_000214.3(JAG1):c.2393T>C (p.Val798Ala) rs1308346607
NM_000214.3(JAG1):c.2436T>G (p.Phe812Leu)
NM_000214.3(JAG1):c.243G>C (p.Glu81Asp) rs2067506800
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn) rs374941347
NM_000214.3(JAG1):c.2458+4A>C rs2122600423
NM_000214.3(JAG1):c.245A>G (p.Tyr82Cys) rs762389862
NM_000214.3(JAG1):c.2465A>G (p.Asn822Ser)
NM_000214.3(JAG1):c.2539C>A (p.Pro847Thr) rs2514510447
NM_000214.3(JAG1):c.253C>T (p.Arg85Cys) rs2122644586
NM_000214.3(JAG1):c.2555G>T (p.Gly852Val) rs1317628159
NM_000214.3(JAG1):c.2557G>T (p.Ala853Ser) rs967515336
NM_000214.3(JAG1):c.2569G>A (p.Glu857Lys) rs2030438986
NM_000214.3(JAG1):c.256G>T (p.Val86Phe)
NM_000214.3(JAG1):c.2572+4T>C rs752615892
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu) rs762121866
NM_000214.3(JAG1):c.260C>G (p.Thr87Arg) rs776251575
NM_000214.3(JAG1):c.2618G>C (p.Gly873Ala) rs2514509582
NM_000214.3(JAG1):c.2636A>G (p.Asp879Gly) rs948733750
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr) rs2514509499
NM_000214.3(JAG1):c.2682G>T (p.Lys894Asn) rs1896874855
NM_000214.3(JAG1):c.26G>C (p.Arg9Pro) rs1248965484
NM_000214.3(JAG1):c.2716A>C (p.Lys906Gln) rs2067273359
NM_000214.3(JAG1):c.2717_2725dup (p.His908_Ser909insLysGlyHis) rs2514509294
NM_000214.3(JAG1):c.271C>G (p.Pro91Ala) rs2514537839
NM_000214.3(JAG1):c.2759T>C (p.Ile920Thr) rs2514509219
NM_000214.3(JAG1):c.2791A>C (p.Thr931Pro) rs2067272394
NM_000214.3(JAG1):c.2797G>A (p.Val933Met) rs2122596605
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp) rs1568792060
NM_000214.3(JAG1):c.2807G>C (p.Cys936Ser) rs1568792050
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp) rs779410593
NM_000214.3(JAG1):c.2836A>G (p.Thr946Ala)
NM_000214.3(JAG1):c.2866G>C (p.Asp956His) rs372430162
NM_000214.3(JAG1):c.2881A>G (p.Ile961Val) rs1028081494
NM_000214.3(JAG1):c.2899_2901del (p.Lys967del) rs2514508997
NM_000214.3(JAG1):c.2904G>C (p.Glu968Asp) rs1378948623
NM_000214.3(JAG1):c.2910G>A (p.Met970Ile) rs2067271012
NM_000214.3(JAG1):c.2914C>T (p.Pro972Ser) rs2067270959
NM_000214.3(JAG1):c.2920C>G (p.Leu974Val) rs757277327
NM_000214.3(JAG1):c.2923A>G (p.Thr975Ala) rs1476119398
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala) rs2514508508
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro) rs1333355200
NM_000214.3(JAG1):c.2932C>T (p.His978Tyr) rs2067268961
NM_000214.3(JAG1):c.2938T>G (p.Cys980Gly) rs2514508482
NM_000214.3(JAG1):c.2972A>C (p.Asn991Thr) rs2514508419
NM_000214.3(JAG1):c.2979_2980delinsTT (p.Ala994Ser) rs2122595817
NM_000214.3(JAG1):c.297_298delinsCT (p.Pro100Ser) rs2122644496
NM_000214.3(JAG1):c.2990C>T (p.Ser997Leu) rs2067268487
NM_000214.3(JAG1):c.2995T>C (p.Tyr999His) rs2514508378
NM_000214.3(JAG1):c.29C>T (p.Ser10Phe) rs1179731936
NM_000214.3(JAG1):c.3000C>G (p.Ile1000Met) rs373759023
NM_000214.3(JAG1):c.3002C>T (p.Ala1001Val) rs2122595760
NM_000214.3(JAG1):c.3016C>T (p.Pro1006Ser) rs2122595723
NM_000214.3(JAG1):c.3017C>G (p.Pro1006Arg) rs747142039
NM_000214.3(JAG1):c.3023C>G (p.Ala1008Gly) rs577307986
NM_000214.3(JAG1):c.3023C>T (p.Ala1008Val)
NM_000214.3(JAG1):c.3029A>G (p.Asn1010Ser) rs2067267863
NM_000214.3(JAG1):c.3031G>C (p.Glu1011Gln) rs2514508288
NM_000214.3(JAG1):c.3032A>G (p.Glu1011Gly) rs2067267844
NM_000214.3(JAG1):c.3047T>C (p.Ile1016Thr)
NM_000214.3(JAG1):c.3048+1G>A rs876661121
NM_000214.3(JAG1):c.3048+1G>T rs876661121
NM_000214.3(JAG1):c.3062T>C (p.Ile1021Thr) rs1736644803
NM_000214.3(JAG1):c.3070G>A (p.Asp1024Asn) rs2514507938
NM_000214.3(JAG1):c.3071A>G (p.Asp1024Gly)
NM_000214.3(JAG1):c.3074_3075delinsAA (p.Gly1025Glu) rs2514507927
NM_000214.3(JAG1):c.307G>A (p.Gly103Arg) rs749591256
NM_000214.3(JAG1):c.307G>C (p.Gly103Arg) rs749591256
NM_000214.3(JAG1):c.3099C>G (p.Asp1033Glu) rs1370741944
NM_000214.3(JAG1):c.310G>A (p.Gly104Ser) rs2514537771
NM_000214.3(JAG1):c.3157G>A (p.Ala1053Thr) rs2067265410
NM_000214.3(JAG1):c.3164T>A (p.Val1055Glu) rs2067265295
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu) rs374758954
NM_000214.3(JAG1):c.3170T>C (p.Val1057Ala) rs2122594991
NM_000214.3(JAG1):c.3195A>C (p.Arg1065Ser) rs2067265121
NM_000214.3(JAG1):c.3206T>C (p.Leu1069Pro) rs2514506767
NM_000214.3(JAG1):c.3208G>A (p.Val1070Ile) rs2514506764
NM_000214.3(JAG1):c.322A>C (p.Asn108His) rs1242473299
NM_000214.3(JAG1):c.3243G>A (p.Trp1081Ter) rs2514506705
NM_000214.3(JAG1):c.3255G>C (p.Leu1085Phe) rs2514506693
NM_000214.3(JAG1):c.3257dup (p.Thr1087fs) rs2067258384
NM_000214.3(JAG1):c.3259A>G (p.Thr1087Ala) rs1600177820
NM_000214.3(JAG1):c.3263C>A (p.Ala1088Asp)
NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del) rs771530161
NM_000214.3(JAG1):c.3287_3295dup (p.Arg1096_Lys1098dup) rs771530161
NM_000214.3(JAG1):c.3325G>T (p.Asp1109Tyr) rs1044765003
NM_000214.3(JAG1):c.3328A>G (p.Asn1110Asp) rs2514506575
NM_000214.3(JAG1):c.3331A>G (p.Thr1111Ala) rs2514506566
NM_000214.3(JAG1):c.3335C>G (p.Thr1112Ser)
NM_000214.3(JAG1):c.3338A>C (p.Asn1113Thr) rs371118939
NM_000214.3(JAG1):c.3340A>G (p.Asn1114Asp) rs2514506554
NM_000214.3(JAG1):c.3349G>A (p.Glu1117Lys)
NM_000214.3(JAG1):c.3353A>T (p.Gln1118Leu)
NM_000214.3(JAG1):c.3353_3354delinsCC (p.Gln1118Pro) rs2122593353
NM_000214.3(JAG1):c.337C>G (p.Arg113Gly)
NM_000214.3(JAG1):c.3391G>T (p.Ala1131Ser) rs769242977
NM_000214.3(JAG1):c.3417_3418inv (p.Glu1140Lys)
NM_000214.3(JAG1):c.343A>G (p.Asn115Asp) rs2122644398
NM_000214.3(JAG1):c.3458A>G (p.Asn1153Ser)
NM_000214.3(JAG1):c.3460T>C (p.Ser1154Pro) rs2122593151
NM_000214.3(JAG1):c.3474G>T (p.Glu1158Asp)
NM_000214.3(JAG1):c.3478G>C (p.Asp1160His) rs755047447
NM_000214.3(JAG1):c.347A>T (p.Asp116Val) rs2067505703
NM_000214.3(JAG1):c.3487A>G (p.Lys1163Glu) rs2514506319
NM_000214.3(JAG1):c.3530C>G (p.Thr1177Arg) rs533237399
NM_000214.3(JAG1):c.3535G>A (p.Val1179Ile) rs2514506247
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys) rs1555830925
NM_000214.3(JAG1):c.3561C>G (p.Asn1187Lys) rs754010868
NM_000214.3(JAG1):c.3586T>G (p.Trp1196Gly) rs2514506148
NM_000214.3(JAG1):c.35G>A (p.Arg12His) rs993180718
NM_000214.3(JAG1):c.3604A>G (p.Asn1202Asp) rs2514506121
NM_000214.3(JAG1):c.3636C>A (p.Asn1212Lys)
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter) rs769276255
NM_000214.3(JAG1):c.3638G>T (p.Arg1213Leu) rs138007561
NM_000214.3(JAG1):c.3642G>A (p.Met1214Ile)
NM_000214.3(JAG1):c.3643G>C (p.Glu1215Gln)
NM_000214.3(JAG1):c.368C>T (p.Pro123Leu) rs2122644329
NM_000214.3(JAG1):c.375T>G (p.Ser125Arg) rs2067505361
NM_000214.3(JAG1):c.376T>G (p.Phe126Val)
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr) rs930247415
NM_000214.3(JAG1):c.379G>T (p.Ala127Ser)
NM_000214.3(JAG1):c.388-14T>A rs1374389007
NM_000214.3(JAG1):c.388-16_388-12delinsCAGAGGTCCTATACG rs2514531207
NM_000214.3(JAG1):c.395A>C (p.Tyr132Ser) rs2514531176
NM_000214.3(JAG1):c.397A>T (p.Thr133Ser)
NM_000214.3(JAG1):c.406G>A (p.Val136Met) rs746158749
NM_000214.3(JAG1):c.413C>T (p.Ala138Val)
NM_000214.3(JAG1):c.439+6T>A rs2067434392
NM_000214.3(JAG1):c.446A>C (p.Asp149Ala)
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro) rs2514526708
NM_000214.3(JAG1):c.473C>T (p.Ser158Leu) rs747203032
NM_000214.3(JAG1):c.484_486del (p.Asn162del) rs2514526677
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser) rs2067394475
NM_000214.3(JAG1):c.490A>G (p.Ser164Gly) rs2514526665
NM_000214.3(JAG1):c.493C>G (p.Arg165Gly) rs749293754
NM_000214.3(JAG1):c.499T>C (p.Trp167Arg) rs2067394353
NM_000214.3(JAG1):c.4C>T (p.Arg2Cys) rs984916696
NM_000214.3(JAG1):c.505A>G (p.Thr169Ala) rs2514526639
NM_000214.3(JAG1):c.524G>T (p.Gly175Val) rs2122623743
NM_000214.3(JAG1):c.52C>A (p.Leu18Ile) rs1333175594
NM_000214.3(JAG1):c.52C>T (p.Leu18Phe) rs1333175594
NM_000214.3(JAG1):c.545A>G (p.Gln182Arg) rs2514526578
NM_000214.3(JAG1):c.554T>A (p.Val185Glu) rs2067393827
NM_000214.3(JAG1):c.559T>C (p.Cys187Arg) rs2514526553
NM_000214.3(JAG1):c.575A>G (p.Tyr192Cys) rs2067393579
NM_000214.3(JAG1):c.590A>C (p.Asn197Thr) rs2122623617
NM_000214.3(JAG1):c.590A>G (p.Asn197Ser) rs2122623617
NM_000214.3(JAG1):c.5G>A (p.Arg2His) rs1026004197
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.61C>G (p.Leu21Val) rs2514538966
NM_000214.3(JAG1):c.627C>A (p.His209Gln) rs2067393373
NM_000214.3(JAG1):c.635G>A (p.Cys212Tyr) rs2514526468
NM_000214.3(JAG1):c.644A>G (p.Asn215Ser) rs2514526463
NM_000214.3(JAG1):c.647G>T (p.Gly216Val) rs2514526454
NM_000214.3(JAG1):c.650A>G (p.Asn217Ser) rs2514526448
NM_000214.3(JAG1):c.665A>G (p.Glu222Gly) rs768447647
NM_000214.3(JAG1):c.677G>A (p.Gly226Asp) rs2514526409
NM_000214.3(JAG1):c.67G>T (p.Ala23Ser) rs2067513128
NM_000214.3(JAG1):c.694+3_694+4del rs1235111413
NM_000214.3(JAG1):c.694+80A>G rs2067392338
NM_000214.3(JAG1):c.703C>G (p.Arg235Gly)
NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr) rs2122620330
NM_000214.3(JAG1):c.716G>A (p.Ser239Asn) rs2067379682
NM_000214.3(JAG1):c.71T>C (p.Leu24Pro) rs1135401949
NM_000214.3(JAG1):c.725A>G (p.His242Arg) rs2514524457
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg) rs2122620282
NM_000214.3(JAG1):c.736A>G (p.Lys246Glu)
NM_000214.3(JAG1):c.757T>C (p.Cys253Arg) rs2122615195
NM_000214.3(JAG1):c.764_765inv (p.Tyr255Cys)
NM_000214.3(JAG1):c.766G>A (p.Gly256Ser)
NM_000214.3(JAG1):c.76G>A (p.Ala26Thr) rs2067513063
NM_000214.3(JAG1):c.771G>T (p.Trp257Cys) rs868134621
NM_000214.3(JAG1):c.779T>C (p.Leu260Pro) rs2067354525
NM_000214.3(JAG1):c.785G>A (p.Cys262Tyr) rs2514521770
NM_000214.3(JAG1):c.793T>G (p.Cys265Gly) rs2514521755
NM_000214.3(JAG1):c.805C>T (p.Pro269Ser) rs2514521742
NM_000214.3(JAG1):c.815T>A (p.Val272Asp) rs773279294
NM_000214.3(JAG1):c.820G>T (p.Gly274Cys) rs2122615095
NM_000214.3(JAG1):c.826T>C (p.Cys276Arg) rs2067354186
NM_000214.3(JAG1):c.838T>G (p.Trp280Gly) rs2514521710
NM_000214.3(JAG1):c.850T>C (p.Cys284Arg) rs2514521701
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe) rs1555829067
NM_000214.3(JAG1):c.857C>T (p.Thr286Ile)
NM_000214.3(JAG1):c.866G>A (p.Gly289Asp) rs2122615016
NM_000214.3(JAG1):c.866G>T (p.Gly289Val) rs2122615016
NM_000214.3(JAG1):c.86G>C (p.Cys29Ser) rs1434161643
NM_000214.3(JAG1):c.872A>T (p.Gln291Leu) rs2122614980
NM_000214.3(JAG1):c.882C>A (p.Asp294Glu) rs2122614970
NM_000214.3(JAG1):c.886+5G>A rs1173329664
NM_000214.3(JAG1):c.920T>C (p.Leu307Pro) rs2514521356
NM_000214.3(JAG1):c.925G>A (p.Gly309Arg)
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) rs750195672
NM_000214.3(JAG1):c.925G>T (p.Gly309Trp) rs750195672
NM_000214.3(JAG1):c.958T>C (p.Tyr320His) rs2122614423
NM_000214.3(JAG1):c.962A>G (p.Gln321Arg) rs2067351426
NM_000214.3(JAG1):c.980G>C (p.Gly327Ala) rs2514521291
NM_000214.3(JAG1):c.994A>T (p.Asn332Tyr) rs562158374

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.