ClinVar Miner

List of variants in gene CDK5RAP2 reported as uncertain significance by GeneDx

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.4733C>T (p.Ser1578Leu) rs138510304 0.00063
NM_018249.6(CDK5RAP2):c.4175A>G (p.Gln1392Arg) rs138157153 0.00043
NM_018249.6(CDK5RAP2):c.4626G>T (p.Leu1542Phe) rs141563261 0.00039
NM_018249.6(CDK5RAP2):c.2636A>G (p.Glu879Gly) rs199766241 0.00034
NM_018249.6(CDK5RAP2):c.5584G>A (p.Val1862Ile) rs147082653 0.00033
NM_018249.6(CDK5RAP2):c.1072G>A (p.Ala358Thr) rs138995980 0.00029
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328 0.00023
NM_018249.6(CDK5RAP2):c.5499T>G (p.Phe1833Leu) rs189396476 0.00019
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu) rs549081765 0.00009
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg) rs143341041 0.00009
NM_018249.6(CDK5RAP2):c.574C>T (p.Arg192Trp) rs369568564 0.00008
NM_018249.6(CDK5RAP2):c.2641G>A (p.Asp881Asn) rs766761953 0.00007
NM_018249.6(CDK5RAP2):c.3523C>T (p.His1175Tyr) rs139143441 0.00007
NM_018249.6(CDK5RAP2):c.4235C>A (p.Ser1412Tyr) rs201387927 0.00007
NM_018249.6(CDK5RAP2):c.1280G>A (p.Arg427Gln) rs141387242 0.00006
NM_018249.6(CDK5RAP2):c.449G>A (p.Arg150Gln) rs199723328 0.00006
NM_018249.6(CDK5RAP2):c.104C>G (p.Pro35Arg) rs369355023 0.00004
NM_018249.6(CDK5RAP2):c.3770G>A (p.Arg1257Gln) rs777532975 0.00004
NM_018249.6(CDK5RAP2):c.5105C>T (p.Ser1702Leu) rs777175354 0.00004
NM_018249.6(CDK5RAP2):c.5354C>T (p.Thr1785Met) rs751971032 0.00004
NM_018249.6(CDK5RAP2):c.5373A>C (p.Glu1791Asp) rs774322006 0.00003
NM_018249.6(CDK5RAP2):c.619G>A (p.Glu207Lys) rs756502330 0.00003
NM_018249.6(CDK5RAP2):c.1145C>T (p.Ala382Val) rs751126483 0.00002
NM_018249.6(CDK5RAP2):c.5222T>C (p.Ile1741Thr) rs754398195 0.00002
NM_018249.6(CDK5RAP2):c.3662T>C (p.Met1221Thr) rs1085307850 0.00001
NM_018249.6(CDK5RAP2):c.3997A>C (p.Met1333Leu) rs2034639358 0.00001
NM_018249.6(CDK5RAP2):c.4579C>T (p.Arg1527Cys) rs768629906 0.00001
NM_018249.6(CDK5RAP2):c.5413C>T (p.Leu1805Phe) rs545543130 0.00001
NM_018249.6(CDK5RAP2):c.1550A>T (p.Glu517Val)
NM_018249.6(CDK5RAP2):c.172C>T (p.Arg58Trp)
NM_018249.6(CDK5RAP2):c.2203-2A>T
NM_018249.6(CDK5RAP2):c.3580A>G (p.Ile1194Val)
NM_018249.6(CDK5RAP2):c.37C>T (p.Pro13Ser)
NM_018249.6(CDK5RAP2):c.4039_4041delinsGTA (p.Leu1347Val) rs1554734754
NM_018249.6(CDK5RAP2):c.4306A>G (p.Ser1436Gly) rs1316940946
NM_018249.6(CDK5RAP2):c.459G>A (p.Val153=) rs1085307847
NM_018249.6(CDK5RAP2):c.533T>C (p.Leu178Pro) rs587783394
NM_018249.6(CDK5RAP2):c.946A>G (p.Arg316Gly) rs751915140

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