ClinVar Miner

List of variants reported as uncertain significance for Alagille syndrome 1

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Total variants: 99
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HGVS dbSNP
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.1102G>A (p.Gly368Ser)
NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe)
NM_000214.3(JAG1):c.116T>A (p.Ile39Asn)
NM_000214.3(JAG1):c.1195G>A (p.Val399Met) rs181970528
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg)
NM_000214.3(JAG1):c.1223C>T (p.Thr408Met)
NM_000214.3(JAG1):c.1309G>C (p.Asp437His)
NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser) rs1187579730
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) rs534533867
NM_000214.3(JAG1):c.139_159del (p.Gly47_Asn53del) rs754284753
NM_000214.3(JAG1):c.1442G>A (p.Gly481Asp)
NM_000214.3(JAG1):c.1443C>T (p.Gly481=) rs879921003
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu) rs770377023
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.1720+3A>G rs1555828541
NM_000214.3(JAG1):c.1756G>A (p.Asp586Asn)
NM_000214.3(JAG1):c.1762C>T (p.Pro588Ser)
NM_000214.3(JAG1):c.1792G>A (p.Val598Ile)
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)
NM_000214.3(JAG1):c.1856A>G (p.Lys619Arg)
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp) rs1261301855
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg) rs1568794319
NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu)
NM_000214.3(JAG1):c.2113+5G>A rs886044704
NM_000214.3(JAG1):c.2252A>G (p.Asn751Ser)
NM_000214.3(JAG1):c.225C>A (p.Phe75Leu) rs1600196460
NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser)
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp) rs760470297
NM_000214.3(JAG1):c.2372+3_2372+6del
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) rs1308346607
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu)
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183
NM_000214.3(JAG1):c.2609T>C (p.Ile870Thr)
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly)
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) rs876661122
NM_000214.3(JAG1):c.2713C>T (p.His905Tyr)
NM_000214.3(JAG1):c.2728G>A (p.Glu910Lys) rs368734792
NM_000214.3(JAG1):c.2767G>A (p.Asp923Asn)
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile)
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp) rs1568792060
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763
NM_000214.3(JAG1):c.2910G>A (p.Met970Ile)
NM_000214.3(JAG1):c.2928G>A (p.Thr976=)
NM_000214.3(JAG1):c.292T>C (p.Ser98Pro)
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=) rs372984801
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys)
NM_000214.3(JAG1):c.3032A>G (p.Glu1011Gly)
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp) rs1057516205
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln)
NM_000214.3(JAG1):c.3233C>G (p.Thr1078Ser)
NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met)
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) rs139629694
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln)
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951
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.3385C>A (p.His1129Asn)
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) rs769242977
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918
NM_000214.3(JAG1):c.347A>T (p.Asp116Val)
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr)
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val) rs918046091
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys) rs1555830925
NM_000214.3(JAG1):c.3566C>T (p.Thr1189Met)
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876
NM_000214.3(JAG1):c.3589A>G (p.Thr1197Ala)
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln) rs138007561
NM_000214.3(JAG1):c.379G>A (p.Ala127Thr)
NM_000214.3(JAG1):c.388-19TTGT[2] rs750004416
NM_000214.3(JAG1):c.439+6T>A
NM_000214.3(JAG1):c.442C>T (p.Pro148Ser)
NM_000214.3(JAG1):c.487C>T (p.Pro163Ser)
NM_000214.3(JAG1):c.493C>G (p.Arg165Gly)
NM_000214.3(JAG1):c.499T>C (p.Trp167Arg)
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773
NM_000214.3(JAG1):c.554T>A (p.Val185Glu)
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.67G>T (p.Ala23Ser)
NM_000214.3(JAG1):c.694+3_694+4del
NM_000214.3(JAG1):c.694+4T>C
NM_000214.3(JAG1):c.708A>G (p.Gln236=)
NM_000214.3(JAG1):c.71T>C (p.Leu24Pro) rs1135401949
NM_000214.3(JAG1):c.722A>G (p.Lys241Arg) rs1405610551
NM_000214.3(JAG1):c.826T>C (p.Cys276Arg)
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe) rs1555829067
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser)
NM_000214.3(JAG1):c.870C>T (p.Gly290=) rs529032883
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr) rs1568798248
NM_000214.3(JAG1):c.886+5G>A rs1173329664
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) rs750195672
NM_000214.3(JAG1):c.962A>G (p.Gln321Arg)

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