ClinVar Miner

List of variants in gene JUP reported as uncertain significance by Ambry Genetics

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Total variants: 29
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HGVS dbSNP
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) rs782465430
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495
NM_002230.4(JUP):c.1513A>G (p.Ile505Val) rs955019712
NM_002230.4(JUP):c.1520A>G (p.Asn507Ser) rs1555599849
NM_002230.4(JUP):c.1565C>T (p.Ala522Val) rs1060502679
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln) rs781828085
NM_002230.4(JUP):c.1814C>T (p.Ala605Val) rs954113545
NM_002230.4(JUP):c.1910G>A (p.Arg637His) rs142095597
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765
NM_002230.4(JUP):c.329C>T (p.Ala110Val) rs782770278
NM_002230.4(JUP):c.389_391TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.436G>T (p.Glu146Ter) rs146581757
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391
NM_002230.4(JUP):c.708-4C>G rs201313464
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864

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