ClinVar Miner

List of variants reported as uncertain significance for Naxos disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
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HGVS dbSNP
NM_002230.4(JUP):c.*1014C>T
NM_002230.4(JUP):c.*1026G>A
NM_002230.4(JUP):c.*1027G>C
NM_002230.4(JUP):c.*18C>T
NM_002230.4(JUP):c.*21C>A rs41275669
NM_002230.4(JUP):c.*239G>A rs115919416
NM_002230.4(JUP):c.*2C>T rs112879398
NM_002230.4(JUP):c.*316G>A
NM_002230.4(JUP):c.*339C>T rs575041614
NM_002230.4(JUP):c.*351G>A
NM_002230.4(JUP):c.*409C>G
NM_002230.4(JUP):c.*413C>T
NM_002230.4(JUP):c.*436G>A rs886052915
NM_002230.4(JUP):c.*497A>T
NM_002230.4(JUP):c.*567C>G rs886052914
NM_002230.4(JUP):c.*573C>T rs886052913
NM_002230.4(JUP):c.*593C>T
NM_002230.4(JUP):c.*623G>A rs55634776
NM_002230.4(JUP):c.*670G>T rs782166986
NM_002230.4(JUP):c.*728A>C
NM_002230.4(JUP):c.*771G>C rs569650118
NM_002230.4(JUP):c.*787A>G
NM_002230.4(JUP):c.*853C>T
NM_002230.4(JUP):c.*87G>A rs375989026
NM_002230.4(JUP):c.*906A>C
NM_002230.4(JUP):c.*98C>T
NM_002230.4(JUP):c.-51C>G rs886052920
NM_002230.4(JUP):c.-55C>T rs886052921
NM_002230.4(JUP):c.-96G>A
NM_002230.4(JUP):c.100G>A (p.Val34Met)
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002230.4(JUP):c.1054+7A>T rs371988639
NM_002230.4(JUP):c.1055-14del rs140002183
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474
NM_002230.4(JUP):c.1347C>T (p.Asp449=) rs763261901
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611
NM_002230.4(JUP):c.1587A>G (p.Gln529=) rs886052919
NM_002230.4(JUP):c.1617G>A (p.Gln539=)
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328
NM_002230.4(JUP):c.1705A>C (p.Ile569Leu)
NM_002230.4(JUP):c.1718A>T (p.Asp573Val) rs886052918
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485
NM_002230.4(JUP):c.1774-6C>T rs375016135
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.1815C>T (p.Ala605=) rs543862977
NM_002230.4(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.4(JUP):c.1854C>T (p.Ala618=) rs782176670
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008
NM_002230.4(JUP):c.192G>A (p.Gly64=) rs141237794
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592
NM_002230.4(JUP):c.1995C>T (p.Ser665=) rs782094877
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662
NM_002230.4(JUP):c.2047-14C>G rs116666639
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly)
NM_002230.4(JUP):c.2086+13C>T rs199935213
NM_002230.4(JUP):c.2087-5C>T rs886052917
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.2207C>T (p.Pro736Leu) rs151178348
NM_002230.4(JUP):c.2208G>A (p.Pro736=) rs371508357
NM_002230.4(JUP):c.2232G>A (p.Leu744=)
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464
NM_002230.4(JUP):c.321G>A (p.Glu107=)
NM_002230.4(JUP):c.375G>C (p.Ser125=)
NM_002230.4(JUP):c.424C>T (p.Arg142Cys)
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422
NM_002230.4(JUP):c.469-12T>C rs782699765
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038
NM_002230.4(JUP):c.519G>A (p.Glu173=)
NM_002230.4(JUP):c.534C>T (p.Ala178=)
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.56C>T (p.Thr19Ile) rs570878629
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964
NM_002230.4(JUP):c.708-12C>G rs781970079
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.931G>A (p.Gly311Arg)
NM_002230.4(JUP):c.967A>G (p.Ser323Gly)
NM_002230.4(JUP):c.973G>A (p.Glu325Lys)
NM_021991.3(JUP):c.*839C>T rs539534709

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