ClinVar Miner

List of variants in gene JAG1 reported as pathogenic by GeneDx

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Total variants: 61
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HGVS dbSNP
GRCh37/hg19 20p12.2(chr20:10639152-10639516)x1
NM_000214.2(JAG1):c.2096_2100delGAAAG (p.Gly699Aspfs) rs886039393
NM_000214.2(JAG1):c.693_694delAG (p.Arg231Serfs) rs876660978
NM_000214.3(JAG1):c.-6_24del (p.Met1_Gly8del) rs863223661
NM_000214.3(JAG1):c.1047dup (p.Ser350fs) rs863223670
NM_000214.3(JAG1):c.1082_1083del (p.Glu361fs) rs876661111
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.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.1615C>T (p.Gln539Ter) rs1555828577
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.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.2080A>T (p.Lys694Ter) rs876661142
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.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2257dup (p.Cys753fs) rs863223672
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) rs755427292
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.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.269_270del (p.Gly90fs) rs863223667
NM_000214.3(JAG1):c.270dup (p.Pro91fs) rs863223667
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.349dup (p.Arg117fs) rs886041727
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) rs886039724
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.537dup (p.Glu180Ter) rs863223663
NM_000214.3(JAG1):c.544C>T (p.Gln182Ter) rs863223678
NM_000214.3(JAG1):c.587_588delinsT (p.Cys196fs) rs863223664
NM_000214.3(JAG1):c.648dup (p.Asn217fs) rs1131691963
NM_000214.3(JAG1):c.664del (p.Glu222fs) rs863223665
NM_000214.3(JAG1):c.694+1G>A rs876660979
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.863G>A (p.Trp288Ter) rs1064796702
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter) rs876661096
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.974_975del (p.Pro325fs) rs863223669

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