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: 36
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HGVS dbSNP
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.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.1366G>A (p.Val456Ile) rs78437817
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_002230.4(JUP):c.1587A>G (p.Gln529=) rs886052919
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.1806C>T (p.Arg602=) rs781934535
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.1912A>C (p.Asn638His) rs782658008
NM_002230.4(JUP):c.1995C>T (p.Ser665=) rs782094877
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.2208G>A (p.Pro736=) rs371508357
NM_002230.4(JUP):c.469-12T>C rs782699765
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629
NM_002230.4(JUP):c.708-12C>G rs781970079
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_021991.3(JUP):c.*839C>T rs539534709

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