ClinVar Miner

List of variants in gene JUP studied for arrhythmogenic right ventricular dysplasia 12

Included ClinVar conditions (2):
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Total variants: 176
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HGVS dbSNP
NM_002230.3(JUP):c.910_912dup (p.Leu304_Ile305insLeu) rs1567812900
NM_002230.4(JUP):c.1022G>A (p.Cys341Tyr) rs1567812537
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706
NM_002230.4(JUP):c.1054+7A>T rs371988639
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly) rs76416187
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser) rs368564000
NM_002230.4(JUP):c.1130G>A (p.Arg377His) rs794729044
NM_002230.4(JUP):c.113_115GCA[1] (p.Ser39del) rs113994176
NM_002230.4(JUP):c.113_115GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.1158+2_1158+4dup
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe) rs369755953
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.4(JUP):c.1232C>T (p.Ala411Val) rs1060502680
NM_002230.4(JUP):c.1262A>G (p.Asn421Ser) rs782135453
NM_002230.4(JUP):c.1280C>T (p.Thr427Met) rs781982717
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.4(JUP):c.1296C>T (p.Asn432=) rs544224850
NM_002230.4(JUP):c.1318C>T (p.His440Tyr)
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045
NM_002230.4(JUP):c.1355C>T (p.Thr452Met) rs781888888
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817
NM_002230.4(JUP):c.136G>A (p.Asp46Asn)
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_002230.4(JUP):c.1379G>A (p.Arg460His) rs397517296
NM_002230.4(JUP):c.1380C>T (p.Arg460=) rs782212737
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn) rs1060502681
NM_002230.4(JUP):c.1430G>A (p.Arg477His)
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys) rs782756834
NM_002230.4(JUP):c.1455C>T (p.Ile485=) rs368692517
NM_002230.4(JUP):c.1455_1462del (p.Val486fs)
NM_002230.4(JUP):c.147C>T (p.Cys49=) rs200001999
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr) rs1220042864
NM_002230.4(JUP):c.148G>A (p.Gly50Arg)
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu)
NM_002230.4(JUP):c.1556A>T (p.Gln519Leu) rs1060502677
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.4(JUP):c.1565C>T (p.Ala522Val) rs1060502679
NM_002230.4(JUP):c.1566G>A (p.Ala522=) rs547437428
NM_002230.4(JUP):c.159C>T (p.Tyr53=) rs370760069
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys)
NM_002230.4(JUP):c.1653+10C>A rs73983658
NM_002230.4(JUP):c.1653G>A (p.Thr551=) rs782044013
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735
NM_002230.4(JUP):c.1702C>T (p.His568Tyr) rs794729048
NM_002230.4(JUP):c.1710C>T (p.Leu570=) rs375801194
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp) rs559297418
NM_002230.4(JUP):c.1715G>A (p.Arg572Gln) rs397517298
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654
NM_002230.4(JUP):c.1774-6C>T rs375016135
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu)
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys)
NM_002230.4(JUP):c.1806C>T (p.Arg602=) rs781934535
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969
NM_002230.4(JUP):c.1807del (p.Val603fs)
NM_002230.4(JUP):c.1850C>T (p.Ala617Val)
NM_002230.4(JUP):c.1857C>T (p.Asp619=) rs782623854
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411
NM_002230.4(JUP):c.1873G>C (p.Gly625Arg) rs1060502678
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) rs782547688
NM_002230.4(JUP):c.1885C>T (p.Pro629Ser) rs1188860546
NM_002230.4(JUP):c.1910G>A (p.Arg637His) rs142095597
NM_002230.4(JUP):c.1924+1G>A
NM_002230.4(JUP):c.192G>A (p.Gly64=) rs141237794
NM_002230.4(JUP):c.1932C>T (p.Tyr644=) rs201704572
NM_002230.4(JUP):c.193G>A (p.Val65Met)
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002230.4(JUP):c.1945C>T (p.Leu649=) rs149148171
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592
NM_002230.4(JUP):c.1989C>T (p.Arg663=) rs145175985
NM_002230.4(JUP):c.1990G>A (p.Val664Met)
NM_002230.4(JUP):c.1996G>T (p.Val666Leu)
NM_002230.4(JUP):c.200C>T (p.Pro67Leu)
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662
NM_002230.4(JUP):c.2046T>A (p.Ala682=) rs782632671
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503
NM_002230.4(JUP):c.208+1G>A
NM_002230.4(JUP):c.2086+7G>C rs727504940
NM_002230.4(JUP):c.209-4C>G rs1555605999
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys)
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser) rs782693565
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348
NM_002230.4(JUP):c.253G>C (p.Val85Leu) rs782425952
NM_002230.4(JUP):c.257G>A (p.Arg86Gln) rs782341732
NM_002230.4(JUP):c.266T>C (p.Met89Thr)
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765
NM_002230.4(JUP):c.275G>A (p.Gly92Asp) rs782737074
NM_002230.4(JUP):c.293G>A (p.Ser98Asn)
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464
NM_002230.4(JUP):c.298C>T (p.Leu100Phe) rs1555605883
NM_002230.4(JUP):c.329C>T (p.Ala110Val) rs782770278
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293
NM_002230.4(JUP):c.379A>G (p.Ile127Val) rs1205967739
NM_002230.4(JUP):c.389_391TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.403G>C (p.Asp135His)
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807
NM_002230.4(JUP):c.406G>T (p.Asp136Tyr)
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626
NM_002230.4(JUP):c.436G>A (p.Glu146Lys)
NM_002230.4(JUP):c.455A>G (p.Asn152Ser)
NM_002230.4(JUP):c.456C>T (p.Asn152=) rs781907298
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262
NM_002230.4(JUP):c.494T>C (p.Ile165Thr) rs1254146503
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933
NM_002230.4(JUP):c.542G>T (p.Gly181Val) rs1555605325
NM_002230.4(JUP):c.542_556dup (p.Gly181_Leu185dup) rs1555605296
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714
NM_002230.4(JUP):c.562G>A (p.Ala188Thr) rs782585387
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312
NM_002230.4(JUP):c.568G>C (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.568G>T (p.Val190Leu)
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282
NM_002230.4(JUP):c.608G>A (p.Arg203His)
NM_002230.4(JUP):c.628C>T (p.His210Tyr) rs1567818128
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644
NM_002230.4(JUP):c.647G>A (p.Arg216Gln) rs782498980
NM_002230.4(JUP):c.652G>C (p.Gly218Arg)
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179
NM_002230.4(JUP):c.674C>T (p.Ser225Leu) rs782685734
NM_002230.4(JUP):c.675G>A (p.Ser225=)
NM_002230.4(JUP):c.682A>G (p.Ile228Val)
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964
NM_002230.4(JUP):c.708-4C>G rs201313464
NM_002230.4(JUP):c.708-6C>T rs782704213
NM_002230.4(JUP):c.71C>T (p.Ser24Leu) rs782460555
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199
NM_002230.4(JUP):c.764T>G (p.Leu255Arg) rs878854482
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640
NM_002230.4(JUP):c.782A>G (p.Lys261Arg) rs782527507
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457
NM_002230.4(JUP):c.804C>T (p.Asp268=) rs782667629
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028
NM_002230.4(JUP):c.859A>G (p.Ile287Val) rs1567815934
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407
NM_002230.4(JUP):c.868G>A (p.Asp290Asn)
NM_002230.4(JUP):c.87C>T (p.Gly29=) rs199530395
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359
NM_002230.4(JUP):c.926A>T (p.Asn309Ile)
NM_002230.4(JUP):c.928G>A (p.Gly310Ser)
NM_002230.4(JUP):c.936C>G (p.Pro312=) rs375094290
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895
NM_002230.4(JUP):c.946G>A (p.Val316Met) rs782285849
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_002230.4(JUP):c.972T>C (p.Tyr324=) rs781889333
NM_002230.4(JUP):c.989C>A (p.Thr330Asn) rs782145797
NM_002230.4(JUP):c.997C>T (p.Arg333Cys)
NM_002230.4(JUP):c.99C>T (p.Cys33=) rs139172952

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