ClinVar Miner

List of variants in gene JAG1 reported by GeneDx

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Gene type:
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Total variants: 110
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HGVS dbSNP
GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1
NM_000214.3(JAG1):c.*2A>G rs879254256
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del) rs863223661
NM_000214.3(JAG1):c.-75_-61dup rs1555831023
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys) rs200227737
NM_000214.3(JAG1):c.1047dup (p.Ser350fs) rs863223670
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs) rs876661111
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala) rs1212026437
NM_000214.3(JAG1):c.1120+10A>G rs201711717
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.1192_1193TG[5] (p.Pro401fs) rs1555828843
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000214.3(JAG1):c.1349-16C>G rs1057523387
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys) rs1289016419
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter) rs886039539
NM_000214.3(JAG1):c.1492_1495del (p.Asn498fs) rs1555828646
NM_000214.3(JAG1):c.1509_1510del (p.Gln503_Asn504insTer) rs886039696
NM_000214.3(JAG1):c.1522dup (p.Arg508fs) rs1555828640
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser) rs756787187
NM_000214.3(JAG1):c.1615C>T (p.Gln539Ter) rs1555828577
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys) rs375017114
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858
NM_000214.3(JAG1):c.1680C>A (p.Cys560Ter) rs886041868
NM_000214.3(JAG1):c.1714_1715TG[1] (p.Cys572_Glu573delinsTer) rs876661126
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.192dup (p.Lys65fs) rs863223666
NM_000214.3(JAG1):c.1946_1951delinsCTCC (p.Asn649fs) rs863223682
NM_000214.3(JAG1):c.2039dup (p.Thr681fs) rs1555828250
NM_000214.3(JAG1):c.2045G>A (p.Cys682Tyr) rs876661229
NM_000214.3(JAG1):c.2080A>T (p.Lys694Ter) rs876661142
NM_000214.3(JAG1):c.2096_2100del rs886039393
NM_000214.3(JAG1):c.2106C>A (p.Cys702Ter) rs863223680
NM_000214.3(JAG1):c.2118_2121CAGT[1] (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2227+9A>G
NM_000214.3(JAG1):c.222C>T (p.Tyr74=)
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2257dup (p.Cys753fs) rs863223672
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) rs755427292
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg) rs149949294
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2344+15C>G rs200139177
NM_000214.3(JAG1):c.2370del (p.Cys791fs) rs886042050
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) rs533306015
NM_000214.3(JAG1):c.2418del (p.Cys806fs) rs876661165
NM_000214.3(JAG1):c.2465del (p.Asn822fs) rs863223673
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) rs141292792
NM_000214.3(JAG1):c.2566C>T (p.Gln856Ter) rs876661061
NM_000214.3(JAG1):c.2619_2620del (p.Ala874fs) rs863223674
NM_000214.3(JAG1):c.2640del (p.Asp879_Cys880insTer) rs1085307595
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694
NM_000214.3(JAG1):c.269_270del (p.Gly90fs) rs863223667
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) rs876661122
NM_000214.3(JAG1):c.270dup (p.Pro91fs) rs863223667
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.2924_2925dup (p.Thr976fs) rs863223683
NM_000214.3(JAG1):c.2948del (p.Glu982_Leu983insTer) rs863223675
NM_000214.3(JAG1):c.2968A>T (p.Lys990Ter) rs876661182
NM_000214.3(JAG1):c.3008_3009dup (p.Pro1004fs) rs863223676
NM_000214.3(JAG1):c.3048+1G>A rs876661121
NM_000214.3(JAG1):c.3048+1G>T rs876661121
NM_000214.3(JAG1):c.3062del (p.Ile1021fs) rs876661095
NM_000214.3(JAG1):c.3067del (p.Asp1023fs) rs863223677
NM_000214.3(JAG1):c.311del (p.Gly104fs) rs886041782
NM_000214.3(JAG1):c.3149C>T (p.Ala1050Val)
NM_000214.3(JAG1):c.3291G>C (p.Arg1097=)
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu) rs200949270
NM_000214.3(JAG1):c.3308del (p.Thr1103fs) rs869312854
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918
NM_000214.3(JAG1):c.349dup (p.Arg117fs) rs886041727
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=)
NM_000214.3(JAG1):c.3517C>A (p.Gln1173Lys) rs1555827480
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=)
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) rs886039724
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.440-3T>C
NM_000214.3(JAG1):c.51G>A (p.Leu17=) rs1018632242
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.537dup (p.Glu180Ter) rs863223663
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter) rs863223678
NM_000214.3(JAG1):c.573C>T (p.Tyr191=)
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs) rs863223664
NM_000214.3(JAG1):c.626A>G (p.His209Arg) rs863223679
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.648dup (p.Asn217fs) rs1131691963
NM_000214.3(JAG1):c.664del (p.Glu222fs) rs863223665
NM_000214.3(JAG1):c.693_694del (p.Arg231Serfs) rs876660978
NM_000214.3(JAG1):c.694+1G>A rs876660979
NM_000214.3(JAG1):c.695-12T>A rs886039498
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000214.3(JAG1):c.765C>G (p.Tyr255Ter) rs1131695
NM_000214.3(JAG1):c.797del (p.Ile266fs) rs863223668
NM_000214.3(JAG1):c.7dup (p.Ser3fs) rs863223662
NM_000214.3(JAG1):c.81+1G>A rs876661066
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) rs768317581
NM_000214.3(JAG1):c.863G>A (p.Trp288Ter) rs1064796702
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter) rs876661096
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.974_975del (p.Pro325fs) rs863223669
NM_000214.3(JAG1):c.97G>A (p.Gly33Ser) rs876661123

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