ClinVar Miner

Variants in gene CDK5RAP2 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 29
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HGVS dbSNP gnomAD frequency
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.5418C>T (p.Pro1806=) rs3739822 0.02551
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.1000-20T>C rs147373270 0.00382
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.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.3558C>T (p.Leu1186=) rs146736925 0.00110
NM_018249.6(CDK5RAP2):c.4605-11G>C rs193196156 0.00101
NM_018249.6(CDK5RAP2):c.3722+19G>A rs375915842 0.00064
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.2571A>G (p.Leu857=) rs562717417 0.00001
NM_018249.6(CDK5RAP2):c.51C>T (p.Ser17=) rs562622614 0.00001
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.6(CDK5RAP2):c.879+26G>T rs41305509

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