ClinVar Miner

List of variants in gene CDK5RAP2 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.-3G>T rs932975 0.97921
NM_018249.6(CDK5RAP2):c.-19T>C rs932974 0.96160
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_018249.6(CDK5RAP2):c.3065G>A (p.Gly1022Glu) rs34523498 0.02942
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_018249.6(CDK5RAP2):c.5362C>A (p.Leu1788Met) rs375896806 0.00003
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679

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