ClinVar Miner

List of variants reported as likely benign for Naxos disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_002230.4(JUP):c.*225T>C rs4627408
NM_002230.4(JUP):c.*286C>T rs73983656
NM_002230.4(JUP):c.*669C>T rs8074883
NM_002230.4(JUP):c.*709G>C rs56339743
NM_002230.4(JUP):c.-88A>G rs4796702
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.4(JUP):c.1296C>T (p.Asn432=) rs544224850
NM_002230.4(JUP):c.1380C>T (p.Arg460=) rs782212737
NM_002230.4(JUP):c.147C>T (p.Cys49=) rs200001999
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.4(JUP):c.1653+10C>A rs73983658
NM_002230.4(JUP):c.1774-13C>T rs116772523
NM_002230.4(JUP):c.1806C>T (p.Arg602=) rs781934535
NM_002230.4(JUP):c.2047-14C>G rs116666639
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.4(JUP):c.209-4C>G rs1555605999
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964
NM_002230.4(JUP):c.708-6C>T rs782704213
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407
NM_002230.4(JUP):c.936C>G (p.Pro312=) rs375094290

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