ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.1565C>T (p.Ala522Val) rs1060502679 0.00010
NM_002230.4(JUP):c.109G>A (p.Val37Ile) rs150769772 0.00006
NM_002230.4(JUP):c.1520A>G (p.Asn507Ser) rs1555599849 0.00006
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099 0.00005
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr) rs1220042864 0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328 0.00004
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys) rs545547083 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002230.4(JUP):c.329C>T (p.Ala110Val) rs782770278 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys) rs782756834 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.2021A>G (p.Lys674Arg) rs1914011596 0.00003
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422 0.00003
NM_002230.4(JUP):c.-4C>T rs782493861 0.00002
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045 0.00002
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg) rs1327324458 0.00002
NM_002230.4(JUP):c.1513A>G (p.Ile505Val) rs955019712 0.00002
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys) rs782455234 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.1850C>T (p.Ala617Val) rs782465804 0.00002
NM_002230.4(JUP):c.2153T>C (p.Met718Thr) rs782336064 0.00002
NM_002230.4(JUP):c.2191G>A (p.Asp731Asn) rs782647137 0.00002
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser) rs781885294 0.00002
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765 0.00002
NM_002230.4(JUP):c.436G>A (p.Glu146Lys) rs146581757 0.00002
NM_002230.4(JUP):c.502C>G (p.Gln168Glu) rs1322804388 0.00002
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437 0.00002
NM_002230.4(JUP):c.524C>T (p.Ser175Leu) rs782435477 0.00002
NM_002230.4(JUP):c.533C>T (p.Ala178Val) rs781976753 0.00002
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391 0.00002
NM_002230.4(JUP):c.646C>T (p.Arg216Trp) rs1490199319 0.00002
NM_002230.4(JUP):c.951G>C (p.Gln317His) rs782215140 0.00002
NM_002230.4(JUP):c.964T>C (p.Tyr322His) rs557075259 0.00002
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr) rs782690097 0.00001
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser) rs368564000 0.00001
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016 0.00001
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp) rs782594495 0.00001
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) rs782465430 0.00001
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys) rs781876461 0.00001
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys) rs782575391 0.00001
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn) rs1060502681 0.00001
NM_002230.4(JUP):c.1394G>A (p.Arg465His) rs369486398 0.00001
NM_002230.4(JUP):c.151C>T (p.Arg51Cys) rs782254006 0.00001
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu) rs139454583 0.00001
NM_002230.4(JUP):c.1624G>A (p.Val542Ile) rs571375136 0.00001
NM_002230.4(JUP):c.1652C>T (p.Thr551Met) rs1038719021 0.00001
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735 0.00001
NM_002230.4(JUP):c.1730G>A (p.Arg577His) rs373434456 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.1760C>T (p.Pro587Leu) rs782490959 0.00001
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu) rs940226194 0.00001
NM_002230.4(JUP):c.1805G>A (p.Arg602His) rs909955430 0.00001
NM_002230.4(JUP):c.1868C>G (p.Ala623Gly) rs782760341 0.00001
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) rs782547688 0.00001
NM_002230.4(JUP):c.1990G>A (p.Val664Met) rs782695128 0.00001
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr) rs1181838480 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 0.00001
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr) rs781869872 0.00001
NM_002230.4(JUP):c.2132T>C (p.Leu711Pro) rs782096012 0.00001
NM_002230.4(JUP):c.2149C>G (p.His717Asp) rs1347008405 0.00001
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744 0.00001
NM_002230.4(JUP):c.256C>T (p.Arg86Trp) rs782240305 0.00001
NM_002230.4(JUP):c.285C>T (p.Gly95=) rs1555605900 0.00001
NM_002230.4(JUP):c.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002230.4(JUP):c.424C>T (p.Arg142Cys) rs199591001 0.00001
NM_002230.4(JUP):c.562G>A (p.Ala188Thr) rs782585387 0.00001
NM_002230.4(JUP):c.571C>T (p.Arg191Cys) rs781905238 0.00001
NM_002230.4(JUP):c.628C>T (p.His210Tyr) rs1567818128 0.00001
NM_002230.4(JUP):c.647G>A (p.Arg216Gln) rs782498980 0.00001
NM_002230.4(JUP):c.698G>A (p.Arg233His) rs1304500107 0.00001
NM_002230.4(JUP):c.705C>T (p.Leu235=) rs887639693 0.00001
NM_002230.4(JUP):c.707+5C>A rs375580484 0.00001
NM_002230.4(JUP):c.793C>T (p.Arg265Cys) rs782761197 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002230.4(JUP):c.802G>A (p.Asp268Asn) rs794729039 0.00001
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454 0.00001
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054 0.00001
NM_002230.4(JUP):c.868G>A (p.Asp290Asn) rs982161216 0.00001
NM_002230.4(JUP):c.884T>C (p.Leu295Pro) rs1567815863 0.00001
NM_002230.4(JUP):c.946G>A (p.Val316Met) rs782285849 0.00001
NM_002230.4(JUP):c.-2C>T
NM_002230.4(JUP):c.-3_6delinsCCA (p.Met1_Glu2del)
NM_002230.4(JUP):c.1046T>A (p.Val349Glu)
NM_002230.4(JUP):c.1066G>A (p.Ala356Thr)
NM_002230.4(JUP):c.1080C>A (p.His360Gln)
NM_002230.4(JUP):c.1113C>A (p.Asn371Lys) rs782009178
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys) rs368564000
NM_002230.4(JUP):c.1134C>G (p.Asn378Lys)
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del) rs113994176
NM_002230.4(JUP):c.1183A>G (p.Ile395Val)
NM_002230.4(JUP):c.1208A>G (p.Asp403Gly)
NM_002230.4(JUP):c.1246T>A (p.Ser416Thr)
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
NM_002230.4(JUP):c.1260C>G (p.Cys420Trp)
NM_002230.4(JUP):c.1269C>G (p.Ser423Arg)
NM_002230.4(JUP):c.1271A>C (p.Lys424Thr)
NM_002230.4(JUP):c.1292A>G (p.Gln431Arg)
NM_002230.4(JUP):c.1328T>C (p.Leu443Pro)
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
NM_002230.4(JUP):c.1481A>G (p.Gln494Arg) rs2143558258
NM_002230.4(JUP):c.1482G>C (p.Gln494His) rs1367975995
NM_002230.4(JUP):c.1497+4C>G
NM_002230.4(JUP):c.1498G>A (p.Ala500Thr)
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser) rs1555599847
NM_002230.4(JUP):c.1528C>G (p.Leu510Val)
NM_002230.4(JUP):c.152G>T (p.Arg51Leu)
NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp) rs1255846046
NM_002230.4(JUP):c.1577G>A (p.Arg526His)
NM_002230.4(JUP):c.1622A>C (p.His541Pro)
NM_002230.4(JUP):c.1622A>T (p.His541Leu) rs782449369
NM_002230.4(JUP):c.1678G>A (p.Val560Met)
NM_002230.4(JUP):c.1685G>A (p.Gly562Asp)
NM_002230.4(JUP):c.1697C>G (p.Ala566Gly)
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe) rs370101446
NM_002230.4(JUP):c.1711G>A (p.Ala571Thr) rs397517297
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln) rs781828085
NM_002230.4(JUP):c.1773+3G>A rs1460748612
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
NM_002230.4(JUP):c.178_186del (p.Thr60_Thr62del)
NM_002230.4(JUP):c.1814C>T (p.Ala605Val) rs954113545
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg) rs1371912642
NM_002230.4(JUP):c.1817G>A (p.Gly606Glu)
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
NM_002230.4(JUP):c.1858G>A (p.Ala620Thr)
NM_002230.4(JUP):c.185C>G (p.Thr62Ser)
NM_002230.4(JUP):c.1873G>A (p.Gly625Arg)
NM_002230.4(JUP):c.1879T>C (p.Ser627Pro)
NM_002230.4(JUP):c.1907C>T (p.Ser636Phe)
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
NM_002230.4(JUP):c.1915G>A (p.Glu639Lys)
NM_002230.4(JUP):c.1924+1G>A rs1597781765
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala) rs2143420466
NM_002230.4(JUP):c.1955T>A (p.Ile652Asn)
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
NM_002230.4(JUP):c.203G>A (p.Ser68Asn)
NM_002230.4(JUP):c.2056A>G (p.Met686Val)
NM_002230.4(JUP):c.2087-4C>A
NM_002230.4(JUP):c.2095G>T (p.Ala699Ser)
NM_002230.4(JUP):c.211_213delinsTAC (p.Asp71Tyr)
NM_002230.4(JUP):c.2125G>A (p.Val709Met)
NM_002230.4(JUP):c.2146A>G (p.Met716Val)
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly) rs1009184280
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu) rs782574785
NM_002230.4(JUP):c.2212C>T (p.Pro738Ser)
NM_002230.4(JUP):c.2222A>G (p.Asp741Gly)
NM_002230.4(JUP):c.2227A>G (p.Met743Val) rs1913591137
NM_002230.4(JUP):c.228G>A (p.Met76Ile) rs202091411
NM_002230.4(JUP):c.238G>A (p.Ala80Thr)
NM_002230.4(JUP):c.250C>G (p.Arg84Gly) rs782306414
NM_002230.4(JUP):c.328G>T (p.Ala110Ser)
NM_002230.4(JUP):c.370A>T (p.Lys124Ter)
NM_002230.4(JUP):c.382G>A (p.Val128Met)
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.401A>G (p.Gln134Arg) rs1057518313
NM_002230.4(JUP):c.436G>T (p.Glu146Ter) rs146581757
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
NM_002230.4(JUP):c.468+4T>C rs782412433
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.476T>C (p.Val159Ala)
NM_002230.4(JUP):c.484G>T (p.Ala162Ser) rs1555605437
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
NM_002230.4(JUP):c.539T>G (p.Met180Arg)
NM_002230.4(JUP):c.542G>T (p.Gly181Val) rs1555605325
NM_002230.4(JUP):c.544T>G (p.Ser182Ala)
NM_002230.4(JUP):c.54G>C (p.Gln18His)
NM_002230.4(JUP):c.568G>C (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.579G>A (p.Met193Ile) rs1916162051
NM_002230.4(JUP):c.595del (p.Leu199fs)
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
NM_002230.4(JUP):c.631_633del (p.Asn211del) rs1916151526
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
NM_002230.4(JUP):c.652G>C (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
NM_002230.4(JUP):c.691C>G (p.Leu231Val)
NM_002230.4(JUP):c.69C>G (p.Asp23Glu)
NM_002230.4(JUP):c.707+2T>C
NM_002230.4(JUP):c.707+3delinsGAGCCCATCAGTGAG
NM_002230.4(JUP):c.716T>C (p.Val239Ala)
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
NM_002230.4(JUP):c.731T>C (p.Phe244Ser) rs1915926866
NM_002230.4(JUP):c.73G>A (p.Gly25Ser)
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
NM_002230.4(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_002230.4(JUP):c.78C>G (p.Ile26Met)
NM_002230.4(JUP):c.800C>A (p.Ala267Asp)
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.862A>G (p.Thr288Ala)
NM_002230.4(JUP):c.880C>T (p.Leu294Phe)
NM_002230.4(JUP):c.909+1del
NM_002230.4(JUP):c.916A>G (p.Ile306Val)
NM_002230.4(JUP):c.916del (p.Ile306fs)
NM_002230.4(JUP):c.927T>A (p.Asn309Lys)
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805
NM_002230.4(JUP):c.957G>A (p.Met319Ile)
NM_002230.4(JUP):c.95C>T (p.Thr32Ile)

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