ClinVar Miner

List of variants in gene JUP reported as uncertain significance for Naxos disease

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP
NM_002230.3(JUP):c.910_912dup (p.Leu304_Ile305insLeu) rs1567812900
NM_002230.4(JUP):c.*239G>A rs115919416
NM_002230.4(JUP):c.*339C>T rs575041614
NM_002230.4(JUP):c.*436G>A rs886052915
NM_002230.4(JUP):c.*567C>G rs886052914
NM_002230.4(JUP):c.*573C>T rs886052913
NM_002230.4(JUP):c.*623G>A rs55634776
NM_002230.4(JUP):c.*670G>T rs782166986
NM_002230.4(JUP):c.*771G>C rs569650118
NM_002230.4(JUP):c.*87G>A rs375989026
NM_002230.4(JUP):c.-51C>G rs886052920
NM_002230.4(JUP):c.-55C>T rs886052921
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.1055-14del rs140002183
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.1158+2_1158+4dup
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.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.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.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.1486C>A (p.Pro496Thr) rs1220042864
NM_002230.4(JUP):c.148G>A (p.Gly50Arg)
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu)
NM_002230.4(JUP):c.1556A>T (p.Gln519Leu) rs1060502677
NM_002230.4(JUP):c.1565C>T (p.Ala522Val) rs1060502679
NM_002230.4(JUP):c.1587A>G (p.Gln529=) rs886052919
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys)
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.1714C>T (p.Arg572Trp) rs559297418
NM_002230.4(JUP):c.1715G>A (p.Arg572Gln) rs397517298
NM_002230.4(JUP):c.1718A>T (p.Asp573Val) rs886052918
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485
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.1824G>A (p.Leu608=) rs376043057
NM_002230.4(JUP):c.1850C>T (p.Ala617Val)
NM_002230.4(JUP):c.1854C>T (p.Ala618=) rs782176670
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.1912A>C (p.Asn638His) rs782658008
NM_002230.4(JUP):c.193G>A (p.Val65Met)
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.1995C>T (p.Ser665=) rs782094877
NM_002230.4(JUP):c.1996G>T (p.Val666Leu)
NM_002230.4(JUP):c.200C>T (p.Pro67Leu)
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503
NM_002230.4(JUP):c.2086+13C>T rs199935213
NM_002230.4(JUP):c.2087-5C>T rs886052917
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.2179G>A (p.Asp727Asn) rs1285789744
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348
NM_002230.4(JUP):c.2208G>A (p.Pro736=) rs371508357
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.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.406G>T (p.Asp136Tyr)
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.469-12T>C rs782699765
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266
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.526C>T (p.Arg176Trp) rs368336007
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.562G>A (p.Ala188Thr) rs782585387
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.647G>A (p.Arg216Gln) rs782498980
NM_002230.4(JUP):c.652G>C (p.Gly218Arg)
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.708-12C>G rs781970079
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.782A>G (p.Lys261Arg) rs782527507
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454
NM_002230.4(JUP):c.859A>G (p.Ile287Val) rs1567815934
NM_002230.4(JUP):c.868G>A (p.Asp290Asn)
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864
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.946G>A (p.Val316Met) rs782285849
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_002230.4(JUP):c.989C>A (p.Thr330Asn) rs782145797
NM_002230.4(JUP):c.997C>T (p.Arg333Cys)
NM_021991.3(JUP):c.*839C>T rs539534709

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