ClinVar Miner

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

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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.-3G>T rs932975 0.97921
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.2274T>C (p.Asp758=) rs2501727 0.18906
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.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.3025+48G>T rs74691300 0.02208
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577 0.02140
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747 0.01549
NM_018249.6(CDK5RAP2):c.880-7A>G rs76132121 0.01314
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro) rs41296081 0.00774
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928 0.00612
NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=) rs77925703 0.00537
NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His) rs35909061 0.00402
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.5578T>C (p.Leu1860=) rs77100552 0.00243
NM_018249.6(CDK5RAP2):c.34G>C (p.Val12Leu) rs146839668 0.00224
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.3558C>T (p.Leu1186=) rs146736925 0.00110
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile) rs145165171 0.00078
NM_018249.6(CDK5RAP2):c.3034C>G (p.Pro1012Ala) rs141496431 0.00073
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.2289C>T (p.His763=) rs36001459 0.00059
NM_018249.6(CDK5RAP2):c.5152C>G (p.Leu1718Val) rs141004029 0.00058
NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg) rs139706626 0.00052
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.519C>T (p.Ala173=) rs139736411 0.00034
NM_018249.6(CDK5RAP2):c.5649A>G (p.Pro1883=) rs199736016 0.00031
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_018249.6(CDK5RAP2):c.3686A>G (p.Asn1229Ser) rs148403620 0.00024
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328 0.00023
NM_018249.6(CDK5RAP2):c.3679A>T (p.Ile1227Phe) rs139203975 0.00019
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.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.3769C>T (p.Arg1257Trp) rs185208659 0.00007
NM_018249.6(CDK5RAP2):c.2644C>G (p.Leu882Val) rs587783383 0.00006
NM_018249.6(CDK5RAP2):c.4325C>T (p.Ser1442Leu) rs376138280 0.00006
NM_018249.6(CDK5RAP2):c.4425G>T (p.Lys1475Asn) rs587783389 0.00006
NM_018249.6(CDK5RAP2):c.4005-1G>A rs587783387 0.00005
NM_018249.6(CDK5RAP2):c.4393A>G (p.Met1465Val) rs201864352 0.00004
NM_018249.6(CDK5RAP2):c.5105C>T (p.Ser1702Leu) rs777175354 0.00004
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_018249.6(CDK5RAP2):c.3859G>T (p.Ala1287Ser) rs587783386 0.00003
NM_018249.6(CDK5RAP2):c.4822A>G (p.Ser1608Gly) rs372057183 0.00003
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.1433T>C (p.Val478Ala) rs587783382 0.00001
NM_018249.6(CDK5RAP2):c.4005G>A (p.Arg1335=) rs760335021 0.00001
NM_018249.6(CDK5RAP2):c.432G>A (p.Arg144=) rs1294025170 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter) rs587783392 0.00001
NM_018249.6(CDK5RAP2):c.5413C>T (p.Leu1805Phe) rs545543130 0.00001
NM_018249.6(CDK5RAP2):c.5641G>C (p.Ala1881Pro) rs766759076 0.00001
NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu) rs568558844 0.00001
NM_018249.6(CDK5RAP2):c.764C>T (p.Ser255Leu) rs35199933 0.00001
NM_018249.6(CDK5RAP2):c.1018del (p.Glu340fs) rs797045441
NM_018249.6(CDK5RAP2):c.1183C>T (p.His395Tyr) rs587783380
NM_018249.6(CDK5RAP2):c.1312-27T>G rs587783381
NM_018249.6(CDK5RAP2):c.1761T>A (p.Ile587=) rs1554755926
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.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.6(CDK5RAP2):c.3258T>C (p.Ser1086=) rs587783384
NM_018249.6(CDK5RAP2):c.3285G>C (p.Met1095Ile) rs587783385
NM_018249.6(CDK5RAP2):c.3940A>G (p.Lys1314Glu) rs2131314540
NM_018249.6(CDK5RAP2):c.4055A>G (p.Glu1352Gly) rs587783388
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter) rs754282058
NM_018249.6(CDK5RAP2):c.4445A>T (p.Glu1482Val) rs587783391
NM_018249.6(CDK5RAP2):c.4594_4595delinsAT (p.Glu1532Met)
NM_018249.6(CDK5RAP2):c.533T>C (p.Leu178Pro) rs587783394
NM_018249.6(CDK5RAP2):c.5359A>C (p.Lys1787Gln) rs587783395
NM_018249.6(CDK5RAP2):c.5448G>A (p.Glu1816=) rs587783396
NM_018249.6(CDK5RAP2):c.547G>C (p.Ala183Pro) rs13287734
NM_018249.6(CDK5RAP2):c.66T>C (p.Leu22=) rs797045443
NM_018249.6(CDK5RAP2):c.879+26G>T rs41305509

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