ClinVar Miner

List of variants in gene CDK5RAP2 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_018249.6(CDK5RAP2):c.1093-27A>G rs2095064 0.83235
NM_018249.6(CDK5RAP2):c.5579-34G>C rs2297457 0.71354
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_018249.6(CDK5RAP2):c.5578+29C>G rs4410972 0.65760
NM_018249.6(CDK5RAP2):c.1483-29T>G rs2490594 0.16966
NM_018249.6(CDK5RAP2):c.5578+48C>T rs10984902 0.10631
NM_018249.6(CDK5RAP2):c.1000-32A>G rs71509524 0.00349
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265 0.00333
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135 0.00277
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485 0.00150
NM_018249.6(CDK5RAP2):c.2826A>T (p.Ile942=) rs142596662 0.00145
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile) rs145165171 0.00078
NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg) rs139706626 0.00052
NM_018249.6(CDK5RAP2):c.519C>T (p.Ala173=) rs139736411 0.00034
NM_018249.6(CDK5RAP2):c.5649A>G (p.Pro1883=) rs199736016 0.00031
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu) rs549081765 0.00009
NM_018249.6(CDK5RAP2):c.432G>A (p.Arg144=) rs1294025170 0.00001
NM_018249.6(CDK5RAP2):c.1761T>A (p.Ile587=) rs1554755926
NM_018249.6(CDK5RAP2):c.3258T>C (p.Ser1086=) rs587783384
NM_018249.6(CDK5RAP2):c.4445A>T (p.Glu1482Val) rs587783391
NM_018249.6(CDK5RAP2):c.879+26G>T rs41305509

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