ClinVar Miner

List of variants in gene CDK5RAP2 reported as likely pathogenic

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.2202+1G>A rs755591966 0.00003
NM_018249.6(CDK5RAP2):c.4005-9A>G rs766773448 0.00001
NM_018249.6(CDK5RAP2):c.4114C>T (p.Arg1372Ter) rs746967357 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018249.6(CDK5RAP2):c.4963+1G>A rs760836130 0.00001
NM_018249.5(CDK5RAP2):c.[280G>C];[3695A>G]
NM_018249.6(CDK5RAP2):c.1066C>T (p.Gln356Ter) rs1564338190
NM_018249.6(CDK5RAP2):c.1092+1G>A
NM_018249.6(CDK5RAP2):c.140del (p.Val47fs) rs786205660
NM_018249.6(CDK5RAP2):c.1967del (p.Lys656fs) rs1554755313
NM_018249.6(CDK5RAP2):c.3610C>T (p.Gln1204Ter)
NM_018249.6(CDK5RAP2):c.3723-2A>C
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter) rs754282058
NM_018249.6(CDK5RAP2):c.4414+1G>A
NM_018249.6(CDK5RAP2):c.4963+2T>C
NM_018249.6(CDK5RAP2):c.5152del (p.Leu1718fs) rs2033156861
NM_018249.6(CDK5RAP2):c.5157G>A (p.Trp1719Ter) rs759189611
NM_018249.6(CDK5RAP2):c.5433C>A (p.Cys1811Ter) rs2032934405
NM_018249.6(CDK5RAP2):c.968del (p.Gly322_Leu323insTer)

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