ClinVar Miner

List of variants in gene CDK5RAP2 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.4964-192G>C rs3780673 0.03545
NM_018249.6(CDK5RAP2):c.2376-228T>C rs41273388 0.02840
NM_018249.6(CDK5RAP2):c.1627-347A>G rs13283499 0.02738
NM_018249.6(CDK5RAP2):c.128-171G>A rs56308811 0.02281
NM_018249.6(CDK5RAP2):c.1311+210C>G rs10984938 0.02279
NM_018249.6(CDK5RAP2):c.5579-242A>G rs113524889 0.01563
NM_018249.6(CDK5RAP2):c.4963+302G>C rs76865555 0.01533
NM_018249.6(CDK5RAP2):c.1312-119A>G rs80011591 0.01532
NM_018249.6(CDK5RAP2):c.5308-30C>T rs142478904 0.01530
NM_018249.6(CDK5RAP2):c.1483-27T>G rs77812790 0.01395
NM_018249.6(CDK5RAP2):c.508-157G>A rs12115543 0.01379
NM_018249.6(CDK5RAP2):c.1482+119T>C rs115951030 0.01362
NM_018249.6(CDK5RAP2):c.508-154T>C rs113976847 0.01288
NM_018249.6(CDK5RAP2):c.5578+60G>C rs7859997 0.01252
NM_018249.6(CDK5RAP2):c.3148+209G>A rs116824113 0.01144
NM_018249.6(CDK5RAP2):c.879+128G>A rs77496814 0.00942
NM_018249.6(CDK5RAP2):c.307-289T>A rs111755029 0.00939
NM_018249.6(CDK5RAP2):c.5626-80C>T rs76452024 0.00933
NM_018249.6(CDK5RAP2):c.59+62T>C rs73660588 0.00890
NM_018249.6(CDK5RAP2):c.1627-288_1627-286del rs557518375 0.00797
NM_018249.6(CDK5RAP2):c.1627-290del rs555333158 0.00797
NM_018249.6(CDK5RAP2):c.663-246A>G rs62577985 0.00774
NM_018249.6(CDK5RAP2):c.1968+241C>T rs114444999 0.00745
NM_018249.6(CDK5RAP2):c.2793+299A>T rs116206522 0.00728
NM_018249.6(CDK5RAP2):c.2376-218C>T rs77869514 0.00726
NM_018249.6(CDK5RAP2):c.4415-262dup rs201243638 0.00714
NM_018249.6(CDK5RAP2):c.4415-264G>C rs192388355 0.00713
NC_000009.12:g.120580337_120580339del rs200726852 0.00677
NM_018249.6(CDK5RAP2):c.195+133G>A rs112448228 0.00673
NM_018249.6(CDK5RAP2):c.2202+209G>T rs141455368 0.00660
NM_018249.6(CDK5RAP2):c.3148+183A>G rs75906965 0.00633
NM_018249.6(CDK5RAP2):c.5578+316G>A rs116591661 0.00613
NM_018249.6(CDK5RAP2):c.1728-69T>G rs73660259 0.00551
NM_018249.6(CDK5RAP2):c.879+226G>A rs59470187 0.00467
NM_018249.6(CDK5RAP2):c.1482+170G>A rs142470608 0.00441
NM_018249.6(CDK5RAP2):c.2375+308G>A rs116393613 0.00439
NM_018249.6(CDK5RAP2):c.1000-20T>C rs147373270 0.00382
NM_018249.6(CDK5RAP2):c.4604+243T>A rs142300381 0.00371
NM_018249.6(CDK5RAP2):c.195+117G>A rs187123086 0.00364
NM_018249.6(CDK5RAP2):c.59+120G>A rs77761844 0.00364
NM_018249.6(CDK5RAP2):c.1000-32A>G rs71509524 0.00349
NM_018249.6(CDK5RAP2):c.1311+185T>G rs184898896 0.00349
NM_018249.6(CDK5RAP2):c.2793+35T>C rs117505828 0.00294
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135 0.00277
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.1593A>G (p.Gln531=) rs140722791 0.00128
NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser) rs61756286 0.00127
NM_018249.6(CDK5RAP2):c.4605-11G>C rs193196156 0.00101
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=) rs61758368 0.00089
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile) rs145165171 0.00078
NM_018249.6(CDK5RAP2):c.5307+49C>T rs200521701 0.00073
NM_018249.6(CDK5RAP2):c.3722+19G>A rs375915842 0.00064
NM_018249.6(CDK5RAP2):c.4320T>A (p.Ser1440=) rs140436216 0.00063
NM_018249.6(CDK5RAP2):c.2289C>T (p.His763=) rs36001459 0.00059
NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg) rs139706626 0.00052
NM_018249.6(CDK5RAP2):c.3015G>A (p.Thr1005=) rs138309325 0.00026
NM_018249.6(CDK5RAP2):c.3003G>A (p.Thr1001=) rs373365484 0.00009
NM_018249.6(CDK5RAP2):c.3361A>G (p.Thr1121Ala) rs201849065 0.00009
NM_018249.6(CDK5RAP2):c.3954C>T (p.Asn1318=) rs149441586 0.00003
NM_018249.6(CDK5RAP2):c.383+11T>G rs764922983 0.00001
NC_000009.12:g.120580340G>C rs114952595
NM_018249.6(CDK5RAP2):c.128-92C>G rs75688196
NM_018249.6(CDK5RAP2):c.1311+205_1311+230del rs1313570179
NM_018249.6(CDK5RAP2):c.1311+209_1311+222del rs1392035969
NM_018249.6(CDK5RAP2):c.1311+215_1311+216insGTCTCACA rs1554770754
NM_018249.6(CDK5RAP2):c.1312-286_1312-285del rs570816083
NM_018249.6(CDK5RAP2):c.1626+318G>T rs73660260
NM_018249.6(CDK5RAP2):c.1627-316A>C rs76628072
NM_018249.6(CDK5RAP2):c.196-76C>T rs73660580
NM_018249.6(CDK5RAP2):c.1968+279T>C rs146113113
NM_018249.6(CDK5RAP2):c.2203-168CT[3] rs149429216
NM_018249.6(CDK5RAP2):c.4777A>G (p.Ser1593Gly) rs1057521033
NM_018249.6(CDK5RAP2):c.508-55A>G rs73660578
NM_018249.6(CDK5RAP2):c.5308-261G>A rs115889058
NM_018249.6(CDK5RAP2):c.5313A>G (p.Pro1771=) rs1554727598
NM_018249.6(CDK5RAP2):c.5579-195C>T rs2297455
NM_018249.6(CDK5RAP2):c.826-285G>A rs148662163
NM_018249.6(CDK5RAP2):c.826-86C>T rs114385062

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