ClinVar Miner

List of variants in gene JUP reported as likely benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_002230.2(JUP):c.1054+7A>T rs371988639
NM_002230.2(JUP):c.1159-13C>A rs201627219
NM_002230.2(JUP):c.1218C>T (p.Asn406=) rs782565128
NM_002230.2(JUP):c.1365C>T (p.Ala455=) rs77375949
NM_002230.2(JUP):c.1366G>A (p.Val456Ile) rs78437817
NM_002230.2(JUP):c.1910G>A (p.Arg637His) rs142095597
NM_002230.2(JUP):c.1959C>T (p.Ser653=) rs375451560
NM_002230.2(JUP):c.1989C>T (p.Arg663=) rs145175985
NM_002230.2(JUP):c.2031G>A (p.Pro677=) rs188888662
NM_002230.2(JUP):c.2086+13C>T rs199935213
NM_002230.2(JUP):c.2086+7G>C rs727504940
NM_002230.2(JUP):c.2178C>T (p.Ile726=) rs141295561
NM_002230.2(JUP):c.297G>A (p.Ser99=) rs200976464
NM_002230.2(JUP):c.459C>T (p.Asp153=) rs376289528
NM_002230.2(JUP):c.486G>A (p.Ala162=) rs113317262
NM_002230.2(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.2(JUP):c.567C>T (p.Val189=) rs35297577
NM_002230.2(JUP):c.633C>T (p.Asn211=) rs372145644
NM_002230.2(JUP):c.708-4C>G rs201313464
NM_002230.2(JUP):c.762C>T (p.Leu254=) rs781805854
NM_002230.2(JUP):c.801C>T (p.Ala267=) rs138397457
NM_002230.2(JUP):c.909+6C>T rs193922705
NM_002230.2(JUP):c.945C>T (p.Leu315=) rs146804895
NM_002230.3(JUP):c.1159-13C>T rs201627219
NM_002230.3(JUP):c.1290A>G (p.Thr430=) rs897549158
NM_002230.3(JUP):c.1497+14G>A rs371853838
NM_002230.3(JUP):c.1914C>T (p.Asn638=) rs368772249
NM_002230.3(JUP):c.2086+14G>A rs727504485
NM_002230.3(JUP):c.351C>T (p.Ala117=) rs397517300
NM_002230.3(JUP):c.66C>T (p.Tyr22=) rs782575179
NM_002230.3(JUP):c.891C>T (p.Tyr297=) rs397517302
NM_021991.3(JUP):c.1377G>T (p.Leu459=) rs147370522

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