ClinVar Miner

Variants in gene CDK5RAP2 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
685 64 1 31 28 0 1 57

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 2 1 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 23 9
likely benign 0 0 23 0 29
benign 0 0 9 29 0

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
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.880-7A>G rs76132121 0.01314
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928 0.00612
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.1218G>A (p.Gln406=) rs61758368 0.00089
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile) rs145165171 0.00078
NM_018249.6(CDK5RAP2):c.1727+15C>G rs188328236 0.00071
NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys) rs150994426 0.00071
NM_018249.6(CDK5RAP2):c.55T>C (p.Cys19Arg) rs143766657 0.00066
NM_018249.6(CDK5RAP2):c.3722+19G>A rs375915842 0.00064
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.4039C>G (p.Leu1347Val) rs144012972 0.00057
NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg) rs139706626 0.00052
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn) rs202075321 0.00046
NM_018249.6(CDK5RAP2):c.4175A>G (p.Gln1392Arg) rs138157153 0.00043
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328 0.00023
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.2482A>G (p.Lys828Glu) rs549081765 0.00009
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg) rs143341041 0.00009
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394 0.00006
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_018249.6(CDK5RAP2):c.2571A>G (p.Leu857=) rs562717417 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018249.6(CDK5RAP2):c.4962C>T (p.His1654=) rs764342492 0.00001
NM_018249.6(CDK5RAP2):c.51C>T (p.Ser17=) rs562622614 0.00001
NM_018249.6(CDK5RAP2):c.1808A>T (p.Asn603Ile)
NM_018249.6(CDK5RAP2):c.1852C>T (p.Arg618Trp)
NM_018249.6(CDK5RAP2):c.1859-14dup rs747385902
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.6(CDK5RAP2):c.4005-15A>G rs387906274
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter) rs754282058
NM_018249.6(CDK5RAP2):c.879+26G>T rs41305509

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