ClinVar Miner

List of variants in gene JUP reported by Biesecker Lab/Human Development Section,National Institutes of Health

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805

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