ClinVar Miner

List of variants in gene JUP reported as likely benign for Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12

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Total variants: 8
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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.1806C>T (p.Arg602=) rs781934535
NM_002230.4(JUP):c.209-4C>G rs1555605999
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964
NM_002230.4(JUP):c.708-6C>T rs782704213
NM_002230.4(JUP):c.936C>G (p.Pro312=) rs375094290

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