ClinVar Miner

List of variants in gene JAG1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP
NM_000214.3(JAG1):c.*7G>A
NM_000214.3(JAG1):c.*9G>A
NM_000214.3(JAG1):c.1006+7G>C
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.1101C>T (p.Thr367=) rs766771784
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.11C>T (p.Pro4Leu) rs1568807505
NM_000214.3(JAG1):c.1214C>G (p.Thr405Ser) rs1237367300
NM_000214.3(JAG1):c.1307G>A (p.Cys436Tyr) rs1568796900
NM_000214.3(JAG1):c.1308C>T (p.Cys436=) rs764485729
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn)
NM_000214.3(JAG1):c.1335G>A (p.Gln445=) rs759545669
NM_000214.3(JAG1):c.1348+3G>A
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys) rs1289016419
NM_000214.3(JAG1):c.1384G>A (p.Ala462Thr) rs201667840
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp)
NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln)
NM_000214.3(JAG1):c.1395+3A>C rs886044220
NM_000214.3(JAG1):c.1395+5_1395+7delinsATG rs1568796544
NM_000214.3(JAG1):c.1415G>A (p.Arg472His) rs574349599
NM_000214.3(JAG1):c.1430C>T (p.Pro477Leu) rs1555828655
NM_000214.3(JAG1):c.1443C>T (p.Gly481=)
NM_000214.3(JAG1):c.1464C>T (p.Ile488=) rs374629171
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)
NM_000214.3(JAG1):c.1537T>C (p.Cys513Arg) rs1568796126
NM_000214.3(JAG1):c.1556G>C (p.Gly519Ala)
NM_000214.3(JAG1):c.1575C>T (p.Asp525=) rs1555828589
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser) rs756787187
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.1689G>A (p.Leu563=)
NM_000214.3(JAG1):c.1704C>T (p.Arg568=)
NM_000214.3(JAG1):c.1748C>T (p.Ala583Val) rs1568795311
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met)
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.1971C>T (p.Asp657=)
NM_000214.3(JAG1):c.197G>A (p.Cys66Tyr)
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654
NM_000214.3(JAG1):c.2011T>C (p.Cys671Arg) rs1568794367
NM_000214.3(JAG1):c.2017C>A (p.Gln673Lys) rs1555828252
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264
NM_000214.3(JAG1):c.204C>T (p.Arg68=) rs565407240
NM_000214.3(JAG1):c.2113+5G>A rs886044704
NM_000214.3(JAG1):c.2148C>T (p.Asn716=)
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443
NM_000214.3(JAG1):c.2298T>C (p.Phe766=) rs771544217
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283
NM_000214.3(JAG1):c.2304C>T (p.Cys768=)
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile) rs754301929
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.233G>A (p.Cys78Tyr) rs1555830957
NM_000214.3(JAG1):c.2345-8_2345-6del rs1396652277
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp)
NM_000214.3(JAG1):c.2383G>A (p.Gly795Ser)
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) rs1308346607
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968
NM_000214.3(JAG1):c.2451C>T (p.Cys817=) rs747532570
NM_000214.3(JAG1):c.2458+10G>C
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) rs141292792
NM_000214.3(JAG1):c.2522G>A (p.Gly841Asp) rs1568792702
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639
NM_000214.3(JAG1):c.2653T>C (p.Cys885Arg) rs1568792271
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr) rs1454234098
NM_000214.3(JAG1):c.2682+8A>G rs560065330
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) rs876661122
NM_000214.3(JAG1):c.2728_2748del (p.Glu910_Ser916del) rs1568792111
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp) rs1568792060
NM_000214.3(JAG1):c.2805G>A (p.Glu935=) rs1568792051
NM_000214.3(JAG1):c.2807G>A (p.Cys936Tyr) rs1568792050
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=) rs1388481192
NM_000214.3(JAG1):c.2877G>A (p.Ala959=)
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met) rs751809412
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
NM_000214.3(JAG1):c.2996A>C (p.Tyr999Ser) rs1555827726
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)
NM_000214.3(JAG1):c.3001G>A (p.Ala1001Thr)
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu)
NM_000214.3(JAG1):c.3045C>G (p.Ala1015=) rs886043607
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.3153C>T (p.Ala1051=)
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp) rs75652750
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp)
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175
NM_000214.3(JAG1):c.3308C>A (p.Thr1103Lys) rs781429347
NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) rs781429347
NM_000214.3(JAG1):c.3308_3309delinsAC (p.Thr1103Asn) rs1555827516
NM_000214.3(JAG1):c.3309A>C (p.Thr1103=) rs1259778353
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=) rs759853433
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) rs377723772
NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln) rs908755268
NM_000214.3(JAG1):c.3351G>C (p.Glu1117Asp) rs1568790865
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918
NM_000214.3(JAG1):c.3515A>G (p.Lys1172Arg) rs762897904
NM_000214.3(JAG1):c.3517C>A (p.Gln1173Lys) rs1555827480
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)
NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser) rs755420729
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln)
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026
NM_000214.3(JAG1):c.36C>A (p.Arg12=) rs886042810
NM_000214.3(JAG1):c.382T>C (p.Trp128Arg) rs1568806888
NM_000214.3(JAG1):c.388-10T>A rs1568803400
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.473C>G (p.Ser158Trp)
NM_000214.3(JAG1):c.474G>C (p.Ser158=)
NM_000214.3(JAG1):c.488C>G (p.Pro163Arg) rs1555829676
NM_000214.3(JAG1):c.489C>T (p.Pro163=)
NM_000214.3(JAG1):c.494G>A (p.Arg165Gln)
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773
NM_000214.3(JAG1):c.56C>T (p.Ala19Val) rs886043988
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro) rs1568807442
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu)
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg) rs1555831004
NM_000214.3(JAG1):c.695-10dup
NM_000214.3(JAG1):c.702C>T (p.Cys234=)
NM_000214.3(JAG1):c.711C>T (p.Gly237=) rs1555829409
NM_000214.3(JAG1):c.776G>T (p.Gly259Val) rs1568798363
NM_000214.3(JAG1):c.813C>G (p.Cys271Trp)
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305
NM_000214.3(JAG1):c.851G>C (p.Cys284Ser) rs1555829067
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) rs768317581
NM_000214.3(JAG1):c.915G>A (p.Pro305=)
NM_000214.3(JAG1):c.931A>G (p.Thr311Ala)
NM_000214.3(JAG1):c.992C>A (p.Pro331His) rs886044339

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