ClinVar Miner

List of variants in gene JUP reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 0.00009
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805

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