ClinVar Miner

List of variants in gene JUP reported as benign for Cardiomyopathy

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.909+17T>C rs12942034 0.81403
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_002230.4(JUP):c.*2C>T rs112879398 0.00630
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969 0.00038
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.909+6C>T rs193922705

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