ClinVar Miner

List of variants in gene JUP reported as likely benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00018
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002230.4(JUP):c.1159-20G>A rs782463183 0.00011
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.1925-19T>G rs545000698 0.00001
NM_002230.4(JUP):c.312C>G (p.Thr104=) rs2143695686

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