ClinVar Miner

List of variants studied for Alagille syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 223
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00903
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_000214.3(JAG1):c.2459-17A>C rs35891274 0.00618
NM_024408.4(NOTCH2):c.1567+12C>T rs78223268 0.00306
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) rs61734328 0.00241
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_000214.3(JAG1):c.1007-16A>G rs201709907 0.00198
NM_024408.4(NOTCH2):c.1568-17C>T rs373665797 0.00198
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_024408.4(NOTCH2):c.1108+14G>A rs377649578 0.00098
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00081
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_024408.4(NOTCH2):c.2752+17G>C rs370708756 0.00066
NM_024408.4(NOTCH2):c.2981+11A>G rs148899572 0.00063
NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=) rs150785478 0.00051
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) rs143506822 0.00021
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00019
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=) rs372865598 0.00018
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_024408.4(NOTCH2):c.2480-4C>G rs201770901 0.00016
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430 0.00016
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr) rs574205422 0.00015
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918 0.00014
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00013
NM_000214.3(JAG1):c.1885+12T>C rs377670685 0.00011
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00011
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694 0.00011
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp) rs587778575 0.00011
NM_000214.3(JAG1):c.1570-20G>A rs140937305 0.00010
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00010
NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn) rs116408209 0.00010
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His) rs587609362 0.00010
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=) rs373846021 0.00009
NM_024408.4(NOTCH2):c.1681+9C>A rs192886452 0.00009
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg) rs199585130 0.00009
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His) rs201968231 0.00009
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly) rs143197714 0.00009
NM_000214.3(JAG1):c.1720+17G>A rs371096301 0.00008
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766 0.00007
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu) rs767826365 0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026 0.00007
NM_024408.4(NOTCH2):c.3912C>T (p.Phe1304=) rs764301517 0.00007
NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr) rs148354054 0.00007
NM_000214.3(JAG1):c.1383C>T (p.Asp461=) rs140604589 0.00006
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359 0.00006
NM_000214.3(JAG1):c.1720+16C>T rs374498402 0.00006
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283 0.00006
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg) rs376092818 0.00006
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala) rs909905245 0.00006
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln) rs138007561 0.00006
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu) rs1026004197 0.00006
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=) rs377566312 0.00006
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser) rs781872271 0.00006
NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=) rs146593279 0.00006
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg) rs373035180 0.00006
NM_024408.4(NOTCH2):c.4229G>A (p.Arg1410His) rs202022988 0.00006
NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr) rs369664394 0.00006
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln) rs376089631 0.00005
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773 0.00005
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu) rs767621140 0.00005
NM_024408.4(NOTCH2):c.6868G>A (p.Glu2290Lys) rs141878560 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_000214.3(JAG1):c.1349-7T>A rs554200350 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg) rs149949294 0.00004
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr) rs372904306 0.00004
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763 0.00004
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met) rs373260040 0.00004
NM_000214.3(JAG1):c.400T>C (p.Leu134=) rs140511204 0.00004
NM_024408.4(NOTCH2):c.1109-12A>C rs782601589 0.00004
NM_024408.4(NOTCH2):c.1158G>A (p.Lys386=) rs781863099 0.00004
NM_024408.4(NOTCH2):c.2647A>G (p.Met883Val) rs145079718 0.00004
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=) rs768669808 0.00004
NM_024408.4(NOTCH2):c.5398C>T (p.Arg1800Cys) rs1450649026 0.00004
NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile) rs144085962 0.00004
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala) rs779769077 0.00004
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) rs201446896 0.00004
NM_024408.4(NOTCH2):c.6313C>T (p.Arg2105Trp) rs372538600 0.00004
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_024408.4(NOTCH2):c.7040G>A (p.Arg2347His) rs201993620 0.00004
NM_024408.4(NOTCH2):c.875-9C>G rs1324363153 0.00004
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2250C>T (p.Pro750=) rs368675736 0.00003
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175 0.00003
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) rs769242977 0.00003
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn) rs755047447 0.00003
NM_000214.3(JAG1):c.819C>T (p.His273=) rs368502056 0.00003
NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu) rs782728045 0.00003
NM_024408.4(NOTCH2):c.3430A>G (p.Ser1144Gly) rs143866883 0.00003
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser) rs782760871 0.00003
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) rs377058108 0.00003
NM_024408.4(NOTCH2):c.4270A>G (p.Thr1424Ala) rs760325217 0.00003
NM_024408.4(NOTCH2):c.5214-12T>C rs770224035 0.00003
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His) rs201996575 0.00003
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val) rs748538625 0.00003
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=) rs760004891 0.00003
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser) rs764210725 0.00003
NM_024408.4(NOTCH2):c.7377G>A (p.Met2459Ile) rs139658777 0.00003
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn) rs758876727 0.00002
NM_000214.3(JAG1):c.1329G>A (p.Met443Ile) rs547676061 0.00002
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg) rs750855317 0.00002
NM_000214.3(JAG1):c.2372+13T>A rs768213112 0.00002
NM_000214.3(JAG1):c.2499G>A (p.Ala833=) rs201954371 0.00002
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile) rs368032094 0.00002
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro) rs750570683 0.00002
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) rs758788135 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000214.3(JAG1):c.975T>G (p.Pro325=) rs1179713453 0.00002
NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp) rs376526633 0.00002
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) rs782191722 0.00002
NM_024408.4(NOTCH2):c.3298G>A (p.Val1100Met) rs782536553 0.00002
NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=) rs765967094 0.00002
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln) rs587737953 0.00002
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp) rs761367735 0.00002
NM_024408.4(NOTCH2):c.6008G>A (p.Arg2003Gln) rs142978073 0.00002
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) rs746551843 0.00002
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile) rs1470762283 0.00002
NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro) rs780904023 0.00002
NM_000214.3(JAG1):c.1120+11T>C rs768847875 0.00001
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr) rs755648887 0.00001
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) rs534533867 0.00001
NM_000214.3(JAG1):c.2345-10T>G rs752854231 0.00001
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp) rs1458651228 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.2573-15G>A rs753341715 0.00001
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly) rs111706668 0.00001
NM_000214.3(JAG1):c.2682+20G>A rs764559590 0.00001
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val) rs773974344 0.00001
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu) rs747142039 0.00001
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn) rs768823146 0.00001
NM_000214.3(JAG1):c.3237G>C (p.Val1079=) rs752052700 0.00001
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln) rs2067258057 0.00001
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln) rs1268561604 0.00001
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser) rs1051571820 0.00001
NM_000214.3(JAG1):c.418G>A (p.Asp140Asn) rs1456733889 0.00001
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) rs768317581 0.00001
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser) rs1412480153 0.00001
NM_000214.3(JAG1):c.978G>A (p.Glu326=) rs1480738447 0.00001
NM_000214.3(JAG1):c.993C>T (p.Pro331=) rs1294629128 0.00001
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.1248G>A (p.Val416=) rs374135765 0.00001
NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val) rs1447605154 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.2142C>G (p.His714Gln) rs1553198250 0.00001
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=) rs139358772 0.00001
NM_024408.4(NOTCH2):c.2381T>C (p.Val794Ala) rs782132637 0.00001
NM_024408.4(NOTCH2):c.2948A>G (p.His983Arg) rs1403687128 0.00001
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365 0.00001
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475 0.00001
NM_024408.4(NOTCH2):c.3701A>G (p.His1234Arg) rs782254462 0.00001
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser) rs1359085444 0.00001
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His) rs751299682 0.00001
NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser) rs886044278 0.00001
NM_024408.4(NOTCH2):c.6079A>G (p.Lys2027Glu) rs1283460236 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr) rs139052054 0.00001
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His) rs781850215 0.00001
NM_024408.4(NOTCH2):c.6904C>G (p.Pro2302Ala) rs764669567 0.00001
NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr) rs1370844431 0.00001
NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr) rs766624616 0.00001
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp) rs1553202314 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NM_000214.3(JAG1):c.-75A>G rs1208905634
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg) rs144204614
NM_000214.3(JAG1):c.120G>C (p.Leu40=) rs1000010346
NM_000214.3(JAG1):c.1349-19_1349-17del rs756384545
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp) rs937263997
NM_000214.3(JAG1):c.1396-27TC[6] rs544547916
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn) rs370107709
NM_000214.3(JAG1):c.1720+16dup rs774418829
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn) rs933125751
NM_000214.3(JAG1):c.2228-13T>G rs1163165774
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr) rs149949294
NM_000214.3(JAG1):c.2344+17del rs774508190
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe) rs1252730791
NM_000214.3(JAG1):c.2916+17G>A rs767489867
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys) rs781509375
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn) rs1278689263
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser) rs1568806951
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.3287_3295del (p.Arg1096_Lys1098del) rs771530161
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr) rs763966262
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser) rs150811951
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly) rs752608779
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter) rs769276255
NM_000214.3(JAG1):c.493C>T (p.Arg165Trp) rs749293754
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.56C>T (p.Ala19Val) rs886043988
NM_000214.3(JAG1):c.694+4TG[8] rs112693360
NM_000214.3(JAG1):c.86G>C (p.Cys29Ser) rs1434161643
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.2239G>A (p.Ala747Thr) rs782424159
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser) rs782798700
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser) rs782108690
NM_024408.4(NOTCH2):c.2699C>T (p.Pro900Leu) rs2101114444
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr) rs1417119248
NM_024408.4(NOTCH2):c.3523-15_3523-13del rs782523879
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys) rs886044885
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser) rs886044112
NM_024408.4(NOTCH2):c.4665T>C (p.Pro1555=) rs587722015
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg) rs774541297
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His) rs1345166838
NM_024408.4(NOTCH2):c.5540AAGATG[1] (p.1847ED[1]) rs764518778
NM_024408.4(NOTCH2):c.6055C>G (p.Arg2019Gly) rs1430961661
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn) rs748876258
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp) rs2101143543
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val) rs763117840
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala) rs1464974590
NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=) rs2101141240
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu) rs1557834076

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