ClinVar Miner

List of variants in gene JUP reported as benign by Ambry Genetics

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_002230.2(JUP):c.*2C>T rs112879398
NM_002230.2(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.2(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.2(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.2(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.2(JUP):c.213T>C (p.Asp71=) rs7405731
NM_002230.2(JUP):c.486G>A (p.Ala162=) rs113317262
NM_021991.3(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_021991.3(JUP):c.405C>T (p.Asp135=) rs17850807
NM_021991.3(JUP):c.425G>A (p.Arg142His) rs41283425
NM_021991.3(JUP):c.527G>A (p.Arg176Gln) rs144171604
NM_021991.3(JUP):c.867C>T (p.Thr289=) rs2230407

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