ClinVar Miner

List of variants in gene JUP reported as likely benign for Cardiomyopathy

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002230.4(JUP):c.1945C>T (p.Leu649=) rs149148171 0.00004
NM_002230.4(JUP):c.357G>A (p.Pro119=) rs782579395 0.00003
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 0.00002
NM_002230.4(JUP):c.1165C>T (p.Leu389=) rs1057523570 0.00001
NM_002230.4(JUP):c.1551G>A (p.Pro517=) rs988891105 0.00001
NM_002230.4(JUP):c.954C>T (p.Ile318=) rs1408439666 0.00001
NM_002230.4(JUP):c.552G>A (p.Gln184=)

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