ClinVar Miner

List of variants in gene CDK5RAP2 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.-3G>T rs932975 0.97921
NM_018249.6(CDK5RAP2):c.-19T>C rs932974 0.96160
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
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.4821G>C (p.Arg1607Ser) rs16909747 0.01549
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=) rs77925703 0.00537
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552 0.00243
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.3558C>T (p.Leu1186=) rs146736925 0.00110
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.5308-6G>T rs147693474 0.00064
NM_018249.6(CDK5RAP2):c.4320T>A (p.Ser1440=) rs140436216 0.00063
NM_018249.6(CDK5RAP2):c.4733C>T (p.Ser1578Leu) rs138510304 0.00063
NM_018249.6(CDK5RAP2):c.2289C>T (p.His763=) rs36001459 0.00059
NM_018249.6(CDK5RAP2):c.2424C>T (p.Phe808=) rs79089953 0.00046
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.5295G>C (p.Glu1765Asp) rs199918999 0.00028
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328 0.00023
NM_018249.6(CDK5RAP2):c.4399A>G (p.Ile1467Val) rs139924571 0.00012
NM_018249.6(CDK5RAP2):c.2157C>T (p.Asp719=) rs557197716 0.00009
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg) rs143341041 0.00009
NM_018249.6(CDK5RAP2):c.5241C>T (p.Leu1747=) rs753148214 0.00005
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter) rs374351172 0.00001
NM_018249.6(CDK5RAP2):c.51C>T (p.Ser17=) rs562622614 0.00001
NM_018249.6(CDK5RAP2):c.1779A>G (p.Gln593=)
NM_018249.6(CDK5RAP2):c.1808A>T (p.Asn603Ile)
NM_018249.6(CDK5RAP2):c.1839C>T (p.Ser613=)
NM_018249.6(CDK5RAP2):c.1852C>T (p.Arg618Trp)
NM_018249.6(CDK5RAP2):c.1899A>C (p.Leu633=)
NM_018249.6(CDK5RAP2):c.1911T>C (p.Leu637=)
NM_018249.6(CDK5RAP2):c.2640C>T (p.Gly880=)
NM_018249.6(CDK5RAP2):c.2643C>T (p.Asp881=)
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.6(CDK5RAP2):c.3192A>G (p.Ser1064=)
NM_018249.6(CDK5RAP2):c.3546C>T (p.His1182=)
NM_018249.6(CDK5RAP2):c.448C>T (p.Arg150Ter)
NM_018249.6(CDK5RAP2):c.4761T>C (p.Pro1587=)
NM_018249.6(CDK5RAP2):c.4776C>T (p.His1592=)
NM_018249.6(CDK5RAP2):c.5448G>A (p.Glu1816=) rs587783396
NM_018249.6(CDK5RAP2):c.5452-8C>T

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