ClinVar Miner

List of variants in gene JUP studied for not provided

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Total variants: 82
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HGVS dbSNP
NC_000017.11:g.41757393T>C
NC_000017.11:g.41757818G>T
NM_002230.4(JUP):c.-8-224C>T
NM_002230.4(JUP):c.-8-261G>A
NM_002230.4(JUP):c.-8-66C>T
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.1158+310G>A
NM_002230.4(JUP):c.1158+344A>G
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.1377G>T (p.Leu459=) rs147370522
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu) rs782683108
NM_002230.4(JUP):c.162G>C (p.Thr54=)
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.1730G>T (p.Arg577Leu) rs373434456
NM_002230.4(JUP):c.1815C>T (p.Ala605=) rs543862977
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.192G>A (p.Gly64=) rs141237794
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002230.4(JUP):c.2046+169T>C
NM_002230.4(JUP):c.2046+180C>T
NM_002230.4(JUP):c.2046+190T>C
NM_002230.4(JUP):c.2047-115T>C
NM_002230.4(JUP):c.2087-116dup
NM_002230.4(JUP):c.2087-18C>T
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.2105G>A (p.Arg702His) rs200690479
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.266T>C (p.Met89Thr)
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.335A>G (p.Asn112Ser) rs372364561
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293
NM_002230.4(JUP):c.389_391TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.406G>C (p.Asp136His) rs782392706
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626
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.526C>T (p.Arg176Trp) rs368336007
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709
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.572G>C (p.Arg191Pro)
NM_002230.4(JUP):c.640C>T (p.His214Tyr) rs794729037
NM_002230.4(JUP):c.647G>A (p.Arg216Gln) rs782498980
NM_002230.4(JUP):c.704T>A (p.Leu235His) rs794729038
NM_002230.4(JUP):c.707+290C>T
NM_002230.4(JUP):c.71C>T (p.Ser24Leu) rs782460555
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199
NM_002230.4(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640
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.879G>A (p.Gln293=) rs1555604492
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864
NM_002230.4(JUP):c.910-161C>T
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805
NM_002230.4(JUP):c.958C>T (p.Arg320Cys) rs200740462

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