ClinVar Miner

List of variants in gene JAG1 reported as benign for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (870):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419 0.71278
NM_000214.3(JAG1):c.440-173C>T rs2273061 0.45420
NM_000214.3(JAG1):c.440-15T>C rs2273060 0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421 0.22213
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585 0.07991
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895 0.01701
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067 0.01238
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00903
NM_000214.3(JAG1):c.2459-17A>C rs35891274 0.00618
NM_000214.3(JAG1):c.2573-16C>T rs112196689 0.00608
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00226
NM_000214.3(JAG1):c.1007-16A>G rs201709907 0.00198
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_000214.3(JAG1):c.1120+10A>G rs201711717 0.00118
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
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.1349-11T>G rs80338240 0.00076
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00044
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00040
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639 0.00032
NM_000214.3(JAG1):c.2344+15C>G rs200139177 0.00029
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=) rs371805640 0.00026
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_000214.3(JAG1):c.2459-13C>T rs543005578 0.00017
NM_000214.3(JAG1):c.2596A>G (p.Met866Val) rs746108409 0.00016
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237 0.00015
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00011
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) rs377723772 0.00011
NM_000214.3(JAG1):c.1570-20G>A rs140937305 0.00010
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp) rs760470297 0.00009
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=) rs372984801 0.00008
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509 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_000214.3(JAG1):c.316A>G (p.Thr106Ala) rs909905245 0.00006
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876 0.00006
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu) rs1026004197 0.00006
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646 0.00005
NM_000214.3(JAG1):c.2928G>A (p.Thr976=) rs764341568 0.00005
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln) rs376089631 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000214.3(JAG1):c.2139G>A (p.Thr713=) rs374177670 0.00004
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763 0.00004
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2114-18T>C rs766999933 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000214.3(JAG1):c.1443C>T (p.Gly481=) rs879921003 0.00002
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro) rs750570683 0.00002
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr) rs769685858 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.1367G>A (p.Gly456Asp) rs534533867 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly) rs111706668 0.00001
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) rs770415804 0.00001
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser) rs1051571820 0.00001
NM_000214.3(JAG1):c.702C>T (p.Cys234=) rs202109974 0.00001
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg) rs144204614
NM_000214.3(JAG1):c.1230G>A (p.Gln410=)
NM_000214.3(JAG1):c.1263T>C (p.Cys421=)
NM_000214.3(JAG1):c.1349-8dup rs767319365
NM_000214.3(JAG1):c.1368C>T (p.Gly456=)
NM_000214.3(JAG1):c.1396-27TC[6] rs544547916
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys)
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)
NM_000214.3(JAG1):c.1551C>T (p.Phe517=)
NM_000214.3(JAG1):c.1823A>G (p.Gln608Arg)
NM_000214.3(JAG1):c.1886-20dup
NM_000214.3(JAG1):c.2150G>C (p.Gly717Ala) rs200473477
NM_000214.3(JAG1):c.2188A>G (p.Met730Val)
NM_000214.3(JAG1):c.2271C>T (p.Gly757=)
NM_000214.3(JAG1):c.2280G>T (p.Val760=)
NM_000214.3(JAG1):c.2344+17del rs774508190
NM_000214.3(JAG1):c.2581A>G (p.Arg861Gly)
NM_000214.3(JAG1):c.2616T>C (p.Asp872=)
NM_000214.3(JAG1):c.2620G>A (p.Ala874Thr)
NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn) rs750102792
NM_000214.3(JAG1):c.2699G>A (p.Arg900Gln)
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala)
NM_000214.3(JAG1):c.2916+27del rs3215563
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp)
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala)
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)
NM_000214.3(JAG1):c.3309A>T (p.Thr1103=)
NM_000214.3(JAG1):c.33G>T (p.Gly11=)
NM_000214.3(JAG1):c.346G>T (p.Asp116Tyr)
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly) rs368162343
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)
NM_000214.3(JAG1):c.694+4TG[8] rs112693360
NM_000214.3(JAG1):c.695-10dup rs762788344
NM_000214.3(JAG1):c.695-5del rs762788344
NM_000214.3(JAG1):c.954C>T (p.Asp318=)

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