ClinVar Miner

List of variants in gene JUP studied for Arrhythmogenic right ventricular dysplasia 12

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.909+17T>C rs12942034 0.81403
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_002230.4(JUP):c.2046+22A>G rs7216034 0.77249
NM_002230.4(JUP):c.1774-34C>A rs8067890 0.71145
NM_002230.4(JUP):c.*225T>C rs4627408 0.70932
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_002230.4(JUP):c.*709G>C rs56339743 0.03348
NM_002230.4(JUP):c.*286C>T rs73983656 0.03337
NM_002230.4(JUP):c.*669C>T rs8074883 0.01622
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_002230.4(JUP):c.*853C>T rs55919561 0.01530
NM_002230.4(JUP):c.*623G>A rs55634776 0.01451
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_002230.4(JUP):c.*1027G>C rs147905567 0.00640
NM_002230.4(JUP):c.*2C>T rs112879398 0.00630
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_002230.4(JUP):c.*239G>A rs115919416 0.00526
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_002230.4(JUP):c.*771G>C rs569650118 0.00130
NM_002230.4(JUP):c.*787A>G rs551870163 0.00125
NM_002230.4(JUP):c.*98C>T rs112151379 0.00080
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969 0.00038
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002230.4(JUP):c.*339C>T rs575041614 0.00031
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.*413C>T rs559600252 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 0.00014
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002230.3(JUP):c.*1136C>T rs539534709 0.00009
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002230.4(JUP):c.809T>A (p.Leu270Gln) rs794729040 0.00008
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002230.4(JUP):c.958C>T (p.Arg320Cys) rs200740462 0.00007
NM_002230.4(JUP):c.*351G>A rs782725604 0.00006
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714 0.00006
NM_002230.4(JUP):c.*728A>C rs889216050 0.00005
NM_002230.4(JUP):c.*906A>C rs569644513 0.00005
NM_002230.4(JUP):c.1130G>A (p.Arg377His) rs794729044 0.00005
NM_002230.4(JUP):c.*87G>A rs375989026 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328 0.00004
NM_002230.4(JUP):c.1806C>T (p.Arg602=) rs781934535 0.00004
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264 0.00004
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00004
NM_002230.4(JUP):c.321G>A (p.Glu107=) rs781978743 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.*573C>T rs886052913 0.00003
NM_002230.4(JUP):c.*670G>T rs782166986 0.00003
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.1995C>T (p.Ser665=) rs782094877 0.00003
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_002230.4(JUP):c.*316G>A rs910457325 0.00002
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.2208G>A (p.Pro736=) rs371508357 0.00002
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964 0.00002
NM_002230.4(JUP):c.*436G>A rs886052915 0.00001
NM_002230.4(JUP):c.*567C>G rs886052914 0.00001
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1347C>T (p.Asp449=) rs763261901 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1815C>T (p.Ala605=) rs543862977 0.00001
NM_002230.4(JUP):c.1854C>T (p.Ala618=) rs782176670 0.00001
NM_002230.4(JUP):c.192G>A (p.Gly64=) rs141237794 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 0.00001
NM_002230.4(JUP):c.2087-5C>T rs886052917 0.00001
NM_002230.4(JUP):c.424C>T (p.Arg142Cys) rs199591001 0.00001
NM_002230.4(JUP):c.469-12T>C rs782699765 0.00001
NM_002230.4(JUP):c.534C>T (p.Ala178=) rs1916171269 0.00001
NM_002230.4(JUP):c.708-12C>G rs781970079 0.00001
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454 0.00001
NM_002230.4(JUP):c.967A>G (p.Ser323Gly) rs781857323 0.00001
NM_002230.4(JUP):c.*1014C>T rs1292357653
NM_002230.4(JUP):c.*1026G>A rs187950810
NM_002230.4(JUP):c.*18C>T rs200222165
NM_002230.4(JUP):c.*409C>G rs1025065671
NM_002230.4(JUP):c.*497A>T rs1913504384
NM_002230.4(JUP):c.*593C>T rs1913479153
NM_002230.4(JUP):c.1105G>T (p.Val369Leu) rs1915425116
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.1617G>A (p.Gln539=) rs1012247750
NM_002230.4(JUP):c.1658G>T (p.Gly553Val)
NM_002230.4(JUP):c.1705A>C (p.Ile569Leu) rs370101446
NM_002230.4(JUP):c.1718A>T (p.Asp573Val) rs886052918
NM_002230.4(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly) rs782124059
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002230.4(JUP):c.2232G>A (p.Leu744=) rs1913590161
NM_002230.4(JUP):c.275G>A (p.Gly92Asp) rs782737074
NM_002230.4(JUP):c.311C>G (p.Thr104Ser)
NM_002230.4(JUP):c.375G>C (p.Ser125=) rs111344340
NM_002230.4(JUP):c.519G>A (p.Glu173=) rs1916176553
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.931G>A (p.Gly311Arg) rs1915488679
NM_002230.4(JUP):c.973G>A (p.Glu325Lys) rs781974007

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