ClinVar Miner

List of variants in gene JUP reported as likely benign by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002230.4(JUP):c.1945C>T (p.Leu649=) rs149148171
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498

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