List of variants in gene JUP reported as benign for Naxos disease; Arrhythmogenic right ventricular dysplasia 12

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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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.2047-14C>G	rs116666639	0.00819
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.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.2025T>C (p.His675=)	rs140670556	0.00259
NM_002230.4(JUP):c.1159-13C>A	rs201627219	0.00258
NM_002230.4(JUP):c.567C>T (p.Val189=)	rs35297577	0.00090
NM_002230.4(JUP):c.297G>A (p.Ser99=)	rs200976464	0.00049
NM_002230.4(JUP):c.510G>A (p.Ser170=)	rs140539043	0.00041
NM_002230.4(JUP):c.1807G>T (p.Val603Leu)	rs200327969	0.00038
NM_002230.4(JUP):c.633C>T (p.Asn211=)	rs372145644	0.00036
NM_002230.4(JUP):c.546G>A (p.Ser182=)	rs202038498	0.00023
NM_002230.4(JUP):c.1941C>T (p.Ala647=)	rs368865601	0.00019
NM_002230.4(JUP):c.1377G>T (p.Leu459=)	rs147370522	0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=)	rs142599474	0.00018
NM_002230.4(JUP):c.527G>A (p.Arg176Gln)	rs144171604	0.00016
NM_002230.4(JUP):c.1365C>T (p.Ala455=)	rs77375949	0.00013
NM_002230.4(JUP):c.1774-6C>T	rs375016135	0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)	rs375788626	0.00007
NM_002230.4(JUP):c.522G>A (p.Ala174=)	rs782745301	0.00004
NM_002230.4(JUP):c.1925-19T>G	rs545000698	0.00001
NM_002230.4(JUP):c.1498-6del	rs1555599887

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