ClinVar Miner

List of variants in gene JUP reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002230.4(JUP):c.195G>T (p.Val65=) rs1454514424 0.00002
NM_002230.4(JUP):c.1506C>T (p.Ile502=) rs372963143 0.00001
NM_002230.4(JUP):c.87C>A (p.Gly29=) rs199530395
NM_002230.4(JUP):c.909+6C>T rs193922705

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