ClinVar Miner

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

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Gene type:
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Total variants: 28
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HGVS dbSNP
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002230.4(JUP):c.1153A>C (p.Lys385Gln) rs727505135
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567
NM_002230.4(JUP):c.1379G>A (p.Arg460His) rs397517296
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628
NM_002230.4(JUP):c.1646C>A (p.Pro549His) rs1555599683
NM_002230.4(JUP):c.1696G>A (p.Ala566Thr) rs727504695
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser) rs397517297
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu) rs397517298
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr) rs397517299
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr) rs727504778
NM_002230.4(JUP):c.193G>T (p.Val65Leu) rs727503100
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348
NM_002230.4(JUP):c.356C>T (p.Pro119Leu) rs376123010
NM_002230.4(JUP):c.389_391TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629
NM_002230.4(JUP):c.708-7C>T rs397517301
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099

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