ClinVar Miner

List of variants in gene JUP reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_002230.4(JUP):c.809T>A (p.Leu270Gln) rs794729040 0.00008
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.624C>G (p.Ile208Met) rs566435665 0.00004
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.1996G>A (p.Val666Met) rs372369061 0.00003
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys) rs199511559 0.00002
NM_002230.4(JUP):c.286G>A (p.Glu96Lys) rs191683892 0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val) rs374566089 0.00002
NM_002230.4(JUP):c.951G>C (p.Gln317His) rs782215140 0.00002
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu) rs782683108 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.1774-8C>T rs781837434 0.00001
NM_002230.4(JUP):c.209-8G>A rs1165044090 0.00001
NM_002230.4(JUP):c.950A>T (p.Gln317Leu) rs782509792 0.00001
NM_002230.4(JUP):c.1232C>T (p.Ala411Val) rs1060502680
NM_002230.4(JUP):c.1730G>T (p.Arg577Leu) rs373434456
NM_002230.4(JUP):c.2046+7A>G
NM_002230.4(JUP):c.737C>A (p.Ala246Asp) rs1419166927
NM_002230.4(JUP):c.842A>G (p.Asn281Ser) rs574465470
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
NM_002230.4(JUP):c.905G>A (p.Ser302Asn) rs570714124

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