ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 28
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265 0.00320
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135 0.00277
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485 0.00152
NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=) rs146736925 0.00098
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=) rs61758368 0.00085
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile) rs145165171 0.00076
NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val) rs143946953 0.00069
NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys) rs150994426 0.00067
NM_018249.6(CDK5RAP2):c.4733C>T (p.Ser1578Leu) rs138510304 0.00063
NM_018249.6(CDK5RAP2):c.55T>C (p.Cys19Arg) rs143766657 0.00060
NM_018249.6(CDK5RAP2):c.5152C>G (p.Leu1718Val) rs141004029 0.00058
NM_018249.6(CDK5RAP2):c.4039C>G (p.Leu1347Val) rs144012972 0.00057
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn) rs202075321 0.00044
NM_018249.6(CDK5RAP2):c.1808A>T (p.Asn603Ile) rs144564533 0.00042
NM_018249.6(CDK5RAP2):c.4175A>G (p.Gln1392Arg) rs138157153 0.00039
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328 0.00026
NM_018249.6(CDK5RAP2):c.1095G>A (p.Gly365=) rs199851990 0.00016
NM_018249.6(CDK5RAP2):c.1892C>G (p.Ser631Cys) rs376225756 0.00013
NM_018249.6(CDK5RAP2):c.4165A>T (p.Ser1389Cys) rs200673172 0.00012
NM_018249.6(CDK5RAP2):c.4399A>G (p.Ile1467Val) rs139924571 0.00012
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu) rs549081765 0.00009
NM_018249.6(CDK5RAP2):c.1852C>T (p.Arg618Trp) rs367955715 0.00008
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg) rs143341041 0.00008
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394 0.00006
NM_018249.6(CDK5RAP2):c.2644C>G (p.Leu882Val) rs587783383 0.00005
NM_018249.6(CDK5RAP2):c.4962C>T (p.His1654=) rs764342492 0.00001
NM_018249.6(CDK5RAP2):c.5452-8C>T rs755755790 0.00001

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