ClinVar Miner

List of variants reported as uncertain significance for biliary tract disorder by Invitae

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 399
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HGVS dbSNP gnomAD frequency
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met) rs145154884 0.00062
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr) rs183480366 0.00016
NM_016356.5(DCDC2):c.785C>T (p.Thr262Ile) rs200534758 0.00011
NM_016356.5(DCDC2):c.770G>A (p.Arg257His) rs200233521 0.00010
NM_016356.5(DCDC2):c.355C>T (p.Pro119Ser) rs1056029060 0.00006
NM_016356.5(DCDC2):c.349G>A (p.Val117Ile) rs781510673 0.00005
NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe) rs200595563 0.00005
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His) rs771591530 0.00004
NM_016356.5(DCDC2):c.1237G>A (p.Gly413Ser) rs771499861 0.00004
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu) rs770377023 0.00003
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175 0.00003
NM_016356.5(DCDC2):c.1100C>T (p.Ser367Leu) rs757670255 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 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.1329G>A (p.Met443Ile) rs547676061 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.34C>T (p.Arg12Cys) rs1452242699 0.00002
NM_016356.5(DCDC2):c.1071C>A (p.Asn357Lys) rs746347880 0.00002
NM_016356.5(DCDC2):c.1154C>T (p.Pro385Leu) rs773020868 0.00002
NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala) rs1043649931 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.11C>T (p.Pro4Leu) rs1568807505 0.00001
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met) rs773039210 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.1442G>A (p.Gly481Asp) rs753841056 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.1792G>A (p.Val598Ile) rs770729371 0.00001
NM_000214.3(JAG1):c.1859G>C (p.Gly620Ala) rs752105789 0.00001
NM_000214.3(JAG1):c.2114G>A (p.Arg705His) rs1320720578 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.2393T>A (p.Val798Glu) rs1308346607 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.2506G>A (p.Val836Met) rs1429547453 0.00001
NM_000214.3(JAG1):c.2519A>G (p.Asn840Ser) rs1568792705 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.3286C>T (p.Arg1096Trp) rs537986153 0.00001
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln) rs2067258057 0.00001
NM_000214.3(JAG1):c.3311A>T (p.His1104Leu) rs1788979891 0.00001
NM_000214.3(JAG1):c.3320C>T (p.Ser1107Phe) rs142294152 0.00001
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys) rs1362853052 0.00001
NM_000214.3(JAG1):c.3530C>T (p.Thr1177Met) rs533237399 0.00001
NM_000214.3(JAG1):c.3563G>C (p.Gly1188Ala) rs766368457 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.4C>G (p.Arg2Gly) rs984916696 0.00001
NM_000214.3(JAG1):c.694+3A>G rs769581869 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_016356.5(DCDC2):c.1024A>T (p.Arg342Trp) rs753636454 0.00001
NM_016356.5(DCDC2):c.1223C>T (p.Thr408Ile) rs1367144327 0.00001
NM_016356.5(DCDC2):c.1241A>C (p.Glu414Ala) rs773832570 0.00001
NM_016356.5(DCDC2):c.401C>T (p.Pro134Leu) rs779076957 0.00001
NM_016356.5(DCDC2):c.929G>C (p.Gly310Ala) rs746447569 0.00001
NC_000006.11:g.(?_24174958)_(24178880_?)dup
NC_000020.10:g.(?_10579323)_(11009878_?)dup
NC_000020.10:g.(?_7812350)_(10654278_?)dup
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.1025C>G (p.Ser342Cys)
NM_000214.3(JAG1):c.1059G>C (p.Glu353Asp)
NM_000214.3(JAG1):c.1064C>A (p.Ser355Tyr)
NM_000214.3(JAG1):c.1066C>A (p.Leu356Met) rs2122613611
NM_000214.3(JAG1):c.1083G>T (p.Glu361Asp)
NM_000214.3(JAG1):c.10C>T (p.Pro4Ser)
NM_000214.3(JAG1):c.1119A>G (p.Thr373=)
NM_000214.3(JAG1):c.1123A>G (p.Ile375Val) rs2122611687
NM_000214.3(JAG1):c.1131C>A (p.Asp377Glu)
NM_000214.3(JAG1):c.1153C>T (p.His385Tyr)
NM_000214.3(JAG1):c.1155C>A (p.His385Gln) rs531019589
NM_000214.3(JAG1):c.1160G>A (p.Gly387Asp)
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn) rs2067508041
NM_000214.3(JAG1):c.1177G>C (p.Val393Leu)
NM_000214.3(JAG1):c.1202C>T (p.Pro401Leu)
NM_000214.3(JAG1):c.1205C>A (p.Pro402Gln)
NM_000214.3(JAG1):c.1216G>A (p.Gly406Arg) rs2067336534
NM_000214.3(JAG1):c.1234+3A>G
NM_000214.3(JAG1):c.1236T>A (p.Asp412Glu) rs1568796947
NM_000214.3(JAG1):c.1249G>A (p.Glu417Lys)
NM_000214.3(JAG1):c.1258C>A (p.Pro420Thr)
NM_000214.3(JAG1):c.1269C>A (p.Asn423Lys)
NM_000214.3(JAG1):c.1277C>T (p.Ser426Phe)
NM_000214.3(JAG1):c.1295C>G (p.Ala432Gly)
NM_000214.3(JAG1):c.1297A>G (p.Ser433Gly)
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.1357G>A (p.Asp453Asn)
NM_000214.3(JAG1):c.1370A>G (p.Gln457Arg)
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp) rs937263997
NM_000214.3(JAG1):c.1396-3T>C
NM_000214.3(JAG1):c.139G>C (p.Gly47Arg)
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del) rs754284753
NM_000214.3(JAG1):c.1426C>A (p.Pro476Thr)
NM_000214.3(JAG1):c.1517T>G (p.Ile506Ser)
NM_000214.3(JAG1):c.151A>G (p.Asn51Asp)
NM_000214.3(JAG1):c.1540C>G (p.Pro514Ala)
NM_000214.3(JAG1):c.1564T>C (p.Cys522Arg)
NM_000214.3(JAG1):c.1570-3C>A
NM_000214.3(JAG1):c.1579G>A (p.Asp527Asn)
NM_000214.3(JAG1):c.1579G>T (p.Asp527Tyr)
NM_000214.3(JAG1):c.1582T>G (p.Tyr528Asp) rs2122607889
NM_000214.3(JAG1):c.1606A>C (p.Asn536His)
NM_000214.3(JAG1):c.1608C>G (p.Asn536Lys)
NM_000214.3(JAG1):c.1616A>G (p.Gln539Arg)
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala)
NM_000214.3(JAG1):c.1654C>T (p.Pro552Ser)
NM_000214.3(JAG1):c.1657G>A (p.Glu553Lys)
NM_000214.3(JAG1):c.1693G>A (p.Asp565Asn)
NM_000214.3(JAG1):c.1696C>G (p.His566Asp) rs927278875
NM_000214.3(JAG1):c.1709C>T (p.Thr570Ile)
NM_000214.3(JAG1):c.1714T>C (p.Cys572Arg)
NM_000214.3(JAG1):c.1720+3A>G rs1555828541
NM_000214.3(JAG1):c.1739T>A (p.Val580Glu)
NM_000214.3(JAG1):c.1744A>G (p.Met582Val) rs2067314648
NM_000214.3(JAG1):c.175C>T (p.Arg59Trp)
NM_000214.3(JAG1):c.1762C>T (p.Pro588Ser) rs1321273663
NM_000214.3(JAG1):c.1806C>G (p.His602Gln)
NM_000214.3(JAG1):c.1832G>T (p.Gly611Val) rs2122606183
NM_000214.3(JAG1):c.184G>C (p.Gly62Arg)
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg) rs1009426924
NM_000214.3(JAG1):c.1898G>A (p.Cys633Tyr)
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.1921G>A (p.Gly641Ser)
NM_000214.3(JAG1):c.194A>G (p.Lys65Arg)
NM_000214.3(JAG1):c.1951T>C (p.Tyr651His)
NM_000214.3(JAG1):c.1963T>C (p.Cys655Arg)
NM_000214.3(JAG1):c.1984G>C (p.Ala662Pro) rs763048289
NM_000214.3(JAG1):c.1997C>T (p.Thr666Ile) rs2122604394
NM_000214.3(JAG1):c.1998C>T (p.Thr666=)
NM_000214.3(JAG1):c.199A>G (p.Thr67Ala)
NM_000214.3(JAG1):c.200C>G (p.Thr67Ser)
NM_000214.3(JAG1):c.2024C>T (p.Pro675Leu)
NM_000214.3(JAG1):c.2030A>C (p.His677Pro)
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn) rs933125751
NM_000214.3(JAG1):c.2051A>G (p.Asp684Gly)
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)
NM_000214.3(JAG1):c.2087G>C (p.Gly696Ala) rs780243244
NM_000214.3(JAG1):c.20G>A (p.Arg7His)
NM_000214.3(JAG1):c.2113+5G>A rs886044704
NM_000214.3(JAG1):c.2120G>A (p.Ser707Asn) rs2122603091
NM_000214.3(JAG1):c.2123A>C (p.Gln708Pro)
NM_000214.3(JAG1):c.2140T>C (p.Cys714Arg)
NM_000214.3(JAG1):c.2141G>A (p.Cys714Tyr) rs2067300040
NM_000214.3(JAG1):c.2143A>C (p.Asn715His)
NM_000214.3(JAG1):c.2161T>A (p.Tyr721Asn)
NM_000214.3(JAG1):c.2173G>T (p.Asp725Tyr) rs2122602965
NM_000214.3(JAG1):c.2174A>G (p.Asp725Gly)
NM_000214.3(JAG1):c.2201G>A (p.Gly734Asp) rs2122602901
NM_000214.3(JAG1):c.2228-13T>C
NM_000214.3(JAG1):c.2228-3T>G
NM_000214.3(JAG1):c.2228-6T>C
NM_000214.3(JAG1):c.2237G>A (p.Ser746Asn) rs2122602515
NM_000214.3(JAG1):c.2254C>G (p.Pro752Ala)
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.2270G>A (p.Gly757Asp)
NM_000214.3(JAG1):c.2283C>T (p.Val761=)
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)
NM_000214.3(JAG1):c.2344+6T>C
NM_000214.3(JAG1):c.2344+7G>A
NM_000214.3(JAG1):c.2344A>G (p.Asn782Asp)
NM_000214.3(JAG1):c.2345-8_2345-6del rs1396652277
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.243G>C (p.Glu81Asp) rs2067506800
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn)
NM_000214.3(JAG1):c.2458+4A>C rs2122600423
NM_000214.3(JAG1):c.245A>G (p.Tyr82Cys)
NM_000214.3(JAG1):c.2539C>A (p.Pro847Thr)
NM_000214.3(JAG1):c.253C>T (p.Arg85Cys) rs2122644586
NM_000214.3(JAG1):c.2555G>T (p.Gly852Val)
NM_000214.3(JAG1):c.2557G>A (p.Ala853Thr)
NM_000214.3(JAG1):c.2557G>T (p.Ala853Ser) rs967515336
NM_000214.3(JAG1):c.2569G>A (p.Glu857Lys)
NM_000214.3(JAG1):c.2572+4T>C
NM_000214.3(JAG1):c.260C>G (p.Thr87Arg)
NM_000214.3(JAG1):c.2618G>C (p.Gly873Ala)
NM_000214.3(JAG1):c.262G>T (p.Ala88Ser)
NM_000214.3(JAG1):c.2636A>G (p.Asp879Gly) rs948733750
NM_000214.3(JAG1):c.2672C>T (p.Ala891Val)
NM_000214.3(JAG1):c.2682G>T (p.Lys894Asn)
NM_000214.3(JAG1):c.26G>C (p.Arg9Pro)
NM_000214.3(JAG1):c.2716A>C (p.Lys906Gln)
NM_000214.3(JAG1):c.2717_2725dup (p.His908_Ser909insLysGlyHis)
NM_000214.3(JAG1):c.271C>G (p.Pro91Ala)
NM_000214.3(JAG1):c.2759T>C (p.Ile920Thr)
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.2803G>A (p.Glu935Lys)
NM_000214.3(JAG1):c.2807G>C (p.Cys936Ser)
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp) rs779410593
NM_000214.3(JAG1):c.2866G>C (p.Asp956His)
NM_000214.3(JAG1):c.2881A>G (p.Ile961Val) rs1028081494
NM_000214.3(JAG1):c.2899_2901del (p.Lys967del)
NM_000214.3(JAG1):c.2904G>C (p.Glu968Asp)
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)
NM_000214.3(JAG1):c.2923A>G (p.Thr975Ala)
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala)
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro) rs1333355200
NM_000214.3(JAG1):c.2932C>T (p.His978Tyr)
NM_000214.3(JAG1):c.2972A>C (p.Asn991Thr)
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)
NM_000214.3(JAG1):c.2995T>C (p.Tyr999His)
NM_000214.3(JAG1):c.29C>T (p.Ser10Phe)
NM_000214.3(JAG1):c.3000C>G (p.Ile1000Met)
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)
NM_000214.3(JAG1):c.3023C>G (p.Ala1008Gly) rs577307986
NM_000214.3(JAG1):c.3029A>G (p.Asn1010Ser) rs2067267863
NM_000214.3(JAG1):c.3031G>C (p.Glu1011Gln)
NM_000214.3(JAG1):c.3032A>G (p.Glu1011Gly) rs2067267844
NM_000214.3(JAG1):c.3048+1G>A rs876661121
NM_000214.3(JAG1):c.3062T>C (p.Ile1021Thr) rs1736644803
NM_000214.3(JAG1):c.3070G>A (p.Asp1024Asn)
NM_000214.3(JAG1):c.3074_3075delinsAA (p.Gly1025Glu)
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)
NM_000214.3(JAG1):c.310G>A (p.Gly104Ser)
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile)
NM_000214.3(JAG1):c.3157G>A (p.Ala1053Thr) rs2067265410
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu)
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)
NM_000214.3(JAG1):c.3208G>A (p.Val1070Ile)
NM_000214.3(JAG1):c.322A>C (p.Asn108His) rs1242473299
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile) rs2067505956
NM_000214.3(JAG1):c.3243G>A (p.Trp1081Ter)
NM_000214.3(JAG1):c.3255G>C (p.Leu1085Phe)
NM_000214.3(JAG1):c.3257dup (p.Thr1087fs) rs2067258384
NM_000214.3(JAG1):c.3259A>G (p.Thr1087Ala) rs1600177820
NM_000214.3(JAG1):c.3261G>A (p.Thr1087=)
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu)
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.3293A>G (p.Lys1098Arg) rs2067257938
NM_000214.3(JAG1):c.3317C>G (p.Ala1106Gly)
NM_000214.3(JAG1):c.3325G>T (p.Asp1109Tyr) rs1044765003
NM_000214.3(JAG1):c.3328A>G (p.Asn1110Asp)
NM_000214.3(JAG1):c.3331A>G (p.Thr1111Ala)
NM_000214.3(JAG1):c.3338A>C (p.Asn1113Thr) rs371118939
NM_000214.3(JAG1):c.3340A>G (p.Asn1114Asp)
NM_000214.3(JAG1):c.3353_3354delinsCC (p.Gln1118Pro) rs2122593353
NM_000214.3(JAG1):c.3377T>C (p.Ile1126Thr)
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.3455A>C (p.His1152Pro)
NM_000214.3(JAG1):c.3460T>C (p.Ser1154Pro) rs2122593151
NM_000214.3(JAG1):c.3476A>T (p.Asp1159Val)
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)
NM_000214.3(JAG1):c.3530C>G (p.Thr1177Arg)
NM_000214.3(JAG1):c.3535G>A (p.Val1179Ile)
NM_000214.3(JAG1):c.3544G>A (p.Glu1182Lys) rs1479790705
NM_000214.3(JAG1):c.3554C>T (p.Pro1185Leu)
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)
NM_000214.3(JAG1):c.35G>A (p.Arg12His) rs993180718
NM_000214.3(JAG1):c.3604A>G (p.Asn1202Asp)
NM_000214.3(JAG1):c.3620G>A (p.Ser1207Asn)
NM_000214.3(JAG1):c.3623C>T (p.Ala1208Val) rs2122592834
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.368C>T (p.Pro123Leu) rs2122644329
NM_000214.3(JAG1):c.375T>G (p.Ser125Arg) rs2067505361
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr) rs930247415
NM_000214.3(JAG1):c.388-14T>A
NM_000214.3(JAG1):c.388-16_388-12delinsCAGAGGTCCTATACG
NM_000214.3(JAG1):c.395A>C (p.Tyr132Ser)
NM_000214.3(JAG1):c.406G>A (p.Val136Met)
NM_000214.3(JAG1):c.422C>A (p.Ser141Tyr)
NM_000214.3(JAG1):c.439+6T>A rs2067434392
NM_000214.3(JAG1):c.442C>T (p.Pro148Ser) rs1355919795
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
NM_000214.3(JAG1):c.473C>T (p.Ser158Leu)
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser) rs2067394475
NM_000214.3(JAG1):c.490A>G (p.Ser164Gly)
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)
NM_000214.3(JAG1):c.505A>G (p.Thr169Ala)
NM_000214.3(JAG1):c.524G>T (p.Gly175Val) rs2122623743
NM_000214.3(JAG1):c.52C>A (p.Leu18Ile)
NM_000214.3(JAG1):c.52C>T (p.Leu18Phe)
NM_000214.3(JAG1):c.545A>G (p.Gln182Arg)
NM_000214.3(JAG1):c.554T>A (p.Val185Glu) rs2067393827
NM_000214.3(JAG1):c.568T>G (p.Tyr190Asp) rs1242543124
NM_000214.3(JAG1):c.575A>G (p.Tyr192Cys) rs2067393579
NM_000214.3(JAG1):c.590A>C (p.Asn197Thr)
NM_000214.3(JAG1):c.590A>G (p.Asn197Ser) rs2122623617
NM_000214.3(JAG1):c.5G>A (p.Arg2His)
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.61C>G (p.Leu21Val)
NM_000214.3(JAG1):c.627C>A (p.His209Gln)
NM_000214.3(JAG1):c.635G>A (p.Cys212Tyr)
NM_000214.3(JAG1):c.644A>G (p.Asn215Ser)
NM_000214.3(JAG1):c.647G>T (p.Gly216Val)
NM_000214.3(JAG1):c.650A>G (p.Asn217Ser)
NM_000214.3(JAG1):c.665A>G (p.Glu222Gly)
NM_000214.3(JAG1):c.677G>A (p.Gly226Asp)
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+4T>C rs944996400
NM_000214.3(JAG1):c.704G>A (p.Arg235Gln) rs1245693208
NM_000214.3(JAG1):c.708A>G (p.Gln236=) rs2067379739
NM_000214.3(JAG1):c.716G>A (p.Ser239Asn) rs2067379682
NM_000214.3(JAG1):c.725A>G (p.His242Arg)
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg) rs2122620282
NM_000214.3(JAG1):c.757T>C (p.Cys253Arg) rs2122615195
NM_000214.3(JAG1):c.764_765inv (p.Tyr255Cys)
NM_000214.3(JAG1):c.76G>A (p.Ala26Thr) rs2067513063
NM_000214.3(JAG1):c.771G>T (p.Trp257Cys)
NM_000214.3(JAG1):c.779T>C (p.Leu260Pro)
NM_000214.3(JAG1):c.785G>A (p.Cys262Tyr)
NM_000214.3(JAG1):c.793T>G (p.Cys265Gly)
NM_000214.3(JAG1):c.805C>T (p.Pro269Ser)
NM_000214.3(JAG1):c.815T>A (p.Val272Asp)
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)
NM_000214.3(JAG1):c.850T>C (p.Cys284Arg)
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe) rs1555829067
NM_000214.3(JAG1):c.866G>A (p.Gly289Asp)
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.870C>T (p.Gly290=) rs529032883
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)
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) 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)
NM_000214.3(JAG1):c.994A>T (p.Asn332Tyr)
NM_016356.5(DCDC2):c.1056T>G (p.Asp352Glu)
NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val) rs1393437679
NM_016356.5(DCDC2):c.1165G>A (p.Glu389Lys)
NM_016356.5(DCDC2):c.1207C>T (p.Arg403Cys)
NM_016356.5(DCDC2):c.1219G>C (p.Gly407Arg) rs756047736
NM_016356.5(DCDC2):c.1220G>T (p.Gly407Val)
NM_016356.5(DCDC2):c.125C>T (p.Ser42Phe)
NM_016356.5(DCDC2):c.1283A>T (p.Asp428Val) rs375119774
NM_016356.5(DCDC2):c.1313G>T (p.Ser438Ile)
NM_016356.5(DCDC2):c.1318C>T (p.Gln440Ter)
NM_016356.5(DCDC2):c.1406A>C (p.Asn469Thr)
NM_016356.5(DCDC2):c.23C>T (p.Ser8Phe)
NM_016356.5(DCDC2):c.326C>T (p.Pro109Leu)
NM_016356.5(DCDC2):c.388C>T (p.Arg130Cys)
NM_016356.5(DCDC2):c.463C>T (p.Arg155Cys)
NM_016356.5(DCDC2):c.467T>A (p.Leu156His)
NM_016356.5(DCDC2):c.656C>T (p.Pro219Leu)
NM_016356.5(DCDC2):c.660_661inv (p.Ser221Gly)
NM_016356.5(DCDC2):c.662G>A (p.Ser221Asn)
NM_016356.5(DCDC2):c.690G>A (p.Met230Ile)
NM_016356.5(DCDC2):c.696G>T (p.Arg232Ser)
NM_016356.5(DCDC2):c.728C>G (p.Pro243Arg) rs948355469
NM_016356.5(DCDC2):c.755G>C (p.Gly252Ala)
NM_016356.5(DCDC2):c.802A>G (p.Asn268Asp) rs1438044739
NM_016356.5(DCDC2):c.803A>G (p.Asn268Ser)
NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del) rs760375899
NM_016356.5(DCDC2):c.85T>C (p.Tyr29His) rs748676214
NM_016356.5(DCDC2):c.866C>T (p.Thr289Met)
NM_016356.5(DCDC2):c.886A>G (p.Lys296Glu)
NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser) rs1416369642
NM_016356.5(DCDC2):c.992A>T (p.Glu331Val)

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