ClinVar Miner

List of variants in gene JUP reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
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.*2C>T rs112879398 0.00630
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002230.4(JUP):c.1054+7A>T rs371988639 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.546G>A (p.Ser182=) rs202038498 0.00023
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.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_002230.4(JUP):c.109G>A (p.Val37Ile) rs150769772 0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900 0.00006
NM_002230.4(JUP):c.1130G>A (p.Arg377His) rs794729044 0.00005
NM_002230.4(JUP):c.1945C>T (p.Leu649=) rs149148171 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.357G>A (p.Pro119=) rs782579395 0.00003
NM_002230.4(JUP):c.286G>A (p.Glu96Lys) rs191683892 0.00002
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 0.00002
NM_002230.4(JUP):c.1165C>T (p.Leu389=) rs1057523570 0.00001
NM_002230.4(JUP):c.1319A>G (p.His440Arg) rs782305614 0.00001
NM_002230.4(JUP):c.151C>T (p.Arg51Cys) rs782254006 0.00001
NM_002230.4(JUP):c.1551G>A (p.Pro517=) rs988891105 0.00001
NM_002230.4(JUP):c.485C>T (p.Ala162Val) rs369121094 0.00001
NM_002230.4(JUP):c.562G>A (p.Ala188Thr) rs782585387 0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr) rs782076415 0.00001
NM_002230.4(JUP):c.764T>G (p.Leu255Arg) rs878854482 0.00001
NM_002230.4(JUP):c.954C>T (p.Ile318=) rs1408439666 0.00001
NM_002230.4(JUP):c.1026dup (p.Ser343fs) rs1915470891
NM_002230.4(JUP):c.1212C>T (p.Asp404=) rs1482026041
NM_002230.4(JUP):c.1497+8T>C rs1555601979
NM_002230.4(JUP):c.1915G>A (p.Glu639Lys)
NM_002230.4(JUP):c.509C>G (p.Ser170Trp) rs782284038
NM_002230.4(JUP):c.532G>A (p.Ala178Thr)
NM_002230.4(JUP):c.552G>A (p.Gln184=)
NM_002230.4(JUP):c.707+5C>T rs375580484
NM_002230.4(JUP):c.708-10A>C
NM_002230.4(JUP):c.708-6C>T rs782704213
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.950A>C (p.Gln317Pro) rs782509792

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