ClinVar Miner

List of variants in gene JUP reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 46
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HGVS dbSNP
NM_002230.4(JUP):c.-42_-27del rs1284180333
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly) rs76416187
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045
NM_002230.4(JUP):c.1355C>T (p.Thr452Met) rs781888888
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735
NM_002230.4(JUP):c.1696G>A (p.Ala566Thr) rs727504695
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe) rs370101446
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) rs782547688
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) rs781883243
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438
NM_002230.4(JUP):c.1913A>C (p.Asn638Thr) rs561484928
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503
NM_002230.4(JUP):c.2098A>G (p.Thr700Ala) rs1555597540
NM_002230.4(JUP):c.209G>C (p.Gly70Ala) rs794729030
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) rs781804177
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348
NM_002230.4(JUP):c.257G>A (p.Arg86Gln) rs782341732
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765
NM_002230.4(JUP):c.286G>A (p.Glu96Lys) rs191683892
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293
NM_002230.4(JUP):c.401A>G (p.Gln134Arg) rs1057518313
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314
NM_002230.4(JUP):c.490A>G (p.Met164Val) rs782573703
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629
NM_002230.4(JUP):c.640C>T (p.His214Tyr) rs794729037
NM_002230.4(JUP):c.704T>A (p.Leu235His) rs794729038
NM_002230.4(JUP):c.71C>T (p.Ser24Leu) rs782460555
NM_002230.4(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_002230.4(JUP):c.802G>A (p.Asp268Asn) rs794729039
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864
NM_002230.4(JUP):c.958C>T (p.Arg320Cys) rs200740462
NM_002230.4(JUP):c.989C>A (p.Thr330Asn) rs782145797

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