ClinVar Miner

List of variants in gene CDK5RAP2 reported as uncertain significance for not specified

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=) rs146736925 0.00110
NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys) rs150994426 0.00071
NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val) rs143946953 0.00069
NM_018249.6(CDK5RAP2):c.55T>C (p.Cys19Arg) rs143766657 0.00066
NM_018249.6(CDK5RAP2):c.4039C>G (p.Leu1347Val) rs144012972 0.00057
NM_018249.6(CDK5RAP2):c.2602C>G (p.Leu868Val) rs142340223 0.00047
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn) rs202075321 0.00046
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_018249.6(CDK5RAP2):c.4297+5G>A rs201798027 0.00020
NM_018249.6(CDK5RAP2):c.1892C>G (p.Ser631Cys) rs376225756 0.00013
NM_018249.6(CDK5RAP2):c.4399A>G (p.Ile1467Val) rs139924571 0.00012
NM_018249.6(CDK5RAP2):c.1382A>G (p.Tyr461Cys) rs140513883 0.00009
NM_018249.6(CDK5RAP2):c.3769C>T (p.Arg1257Trp) rs185208659 0.00007
NM_018249.6(CDK5RAP2):c.1A>G (p.Met1Val) rs375556534 0.00004
NM_018249.6(CDK5RAP2):c.5105C>T (p.Ser1702Leu) rs777175354 0.00004
NM_018249.6(CDK5RAP2):c.1340G>A (p.Arg447His) rs777203757 0.00002
NM_018249.6(CDK5RAP2):c.4310T>C (p.Ile1437Thr) rs375065457 0.00002
NM_018249.6(CDK5RAP2):c.4005G>A (p.Arg1335=) rs760335021 0.00001
NM_018249.6(CDK5RAP2):c.5641G>C (p.Ala1881Pro) rs766759076 0.00001
NM_018249.6(CDK5RAP2):c.1906T>G (p.Cys636Gly) rs797045442
NM_018249.6(CDK5RAP2):c.284C>A (p.Pro95His) rs569172233
NM_018249.6(CDK5RAP2):c.2852T>G (p.Met951Arg) rs143361777
NM_018249.6(CDK5RAP2):c.3940A>G (p.Lys1314Glu) rs2131314540
NM_018249.6(CDK5RAP2):c.4039_4041delinsGTA (p.Leu1347Val) rs1554734754
NM_018249.6(CDK5RAP2):c.4594_4595delinsAT (p.Glu1532Met)
NM_018249.6(CDK5RAP2):c.66T>C (p.Leu22=) rs797045443

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