ClinVar Miner

Variants in gene CDKN2A with conflicting interpretations

See also:
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:

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
1203 238 6 37 62 0 14 107

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 6 18 5 0 0
likely pathogenic 18 0 10 0 0
uncertain significance 5 10 0 58 11
likely benign 0 0 58 0 19
benign 0 0 11 19 0

All variants with conflicting interpretations #

Total variants: 107
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000077.5(CDKN2A):c.151-1238G>A rs3731245 0.00519
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00490
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=) rs201208890 0.00273
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_000077.5(CDKN2A):c.458-491C>T rs181044510 0.00229
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00055
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613 0.00035
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=) rs374360796 0.00024
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000077.5(CDKN2A):c.51C>A (p.Ala17=) rs764362225 0.00019
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val) rs373291490 0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00009
NM_000077.5(CDKN2A):c.405G>A (p.Gly135=) rs751586391 0.00009
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu) rs201314211 0.00005
NM_000077.5(CDKN2A):c.*13G>C rs374668781 0.00004
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000077.5(CDKN2A):c.*6C>G rs375628411 0.00002
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln) rs373407950 0.00002
NM_000077.5(CDKN2A):c.150+20C>T rs550846229 0.00002
NM_000077.5(CDKN2A):c.198C>T (p.His66=) rs374984975 0.00002
NM_000077.5(CDKN2A):c.342C>G (p.Pro114=) rs878853648 0.00002
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=) rs778871932 0.00002
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg) rs528789830 0.00002
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala) rs746834149 0.00001
NM_000077.5(CDKN2A):c.150+6T>C rs1025333664 0.00001
NM_000077.5(CDKN2A):c.168C>T (p.Ser56=) rs771138120 0.00001
NM_000077.5(CDKN2A):c.177G>A (p.Val59=) rs527503775 0.00001
NM_000077.5(CDKN2A):c.210C>T (p.Pro70=) rs864622570 0.00001
NM_000077.5(CDKN2A):c.225C>G (p.Pro75=) rs762397298 0.00001
NM_000077.5(CDKN2A):c.258C>T (p.Ala86=) rs1001405220 0.00001
NM_000077.5(CDKN2A):c.300C>T (p.Ala100=) rs876660818 0.00001
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu) rs763269347 0.00001
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His) rs370823171 0.00001
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu) rs1374664673 0.00001
NM_000077.5(CDKN2A):c.351G>C (p.Leu117=) rs1060504182 0.00001
NM_000077.5(CDKN2A):c.388C>T (p.Leu130=) rs1060501261 0.00001
NM_000077.5(CDKN2A):c.407G>A (p.Gly136Asp) rs758832729 0.00001
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg) rs587781733 0.00001
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr) rs754195015 0.00001
NM_000077.5(CDKN2A):c.458-105A>G rs1060501266 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro) rs878853650 0.00001
NM_058195.4(CDKN2A):c.-39G>A rs1064793537 0.00001
NM_058195.4(CDKN2A):c.115G>A (p.Ala39Thr) rs1064795551 0.00001
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.123G>A (p.Pro41=) rs754366579
NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) rs786204195
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000077.5(CDKN2A):c.150+8G>A rs1419306566
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) rs104894095
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.17G>A (p.Gly6Glu) rs864622656
NM_000077.5(CDKN2A):c.190C>T (p.Leu64=) rs2131096124
NM_000077.5(CDKN2A):c.192G>T (p.Leu64=) rs876659128
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro) rs1587332314
NM_000077.5(CDKN2A):c.199G>A (p.Gly67Ser) rs758389471
NM_000077.5(CDKN2A):c.19A>T (p.Ser7Cys) rs1554656670
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.5(CDKN2A):c.219C>T (p.Ala73=) rs730881679
NM_000077.5(CDKN2A):c.222C>T (p.Asp74=) rs1587332001
NM_000077.5(CDKN2A):c.234C>T (p.Leu78=) rs1587331920
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.5(CDKN2A):c.242C>G (p.Pro81Arg) rs11552823
NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.5(CDKN2A):c.249C>A (p.His83Gln) rs34968276
NM_000077.5(CDKN2A):c.249C>T (p.His83=) rs34968276
NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys) rs145445140
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly) rs34886500
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.303G>A (p.Gly101=) rs1554654044
NM_000077.5(CDKN2A):c.319C>T (p.Arg107Cys) rs1554654024
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000077.5(CDKN2A):c.339G>A (p.Leu113=) rs575031539
NM_000077.5(CDKN2A):c.339_340delinsCT (p.Pro114Ser) rs387906410
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000077.5(CDKN2A):c.351G>A (p.Leu117=) rs1060504182
NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val) rs142371511
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.5(CDKN2A):c.418A>C (p.Ser140Arg) rs1587330504
NM_000077.5(CDKN2A):c.42C>A (p.Asp14Glu) rs1819961127
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr) rs730881680
NM_000077.5(CDKN2A):c.457+1_457+10del rs1587330284
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.5(CDKN2A):c.458-4G>C rs876660514
NM_000077.5(CDKN2A):c.465C>G (p.Pro155=) rs1471079871
NM_000077.5(CDKN2A):c.466G>A (p.Asp156Asn) rs755445934
NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg) rs864622263
NM_000077.5(CDKN2A):c.66G>A (p.Arg22=) rs776810546
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_000077.5(CDKN2A):c.71G>A (p.Arg24Gln) rs104894097
NM_000077.5(CDKN2A):c.84G>A (p.Val28=) rs1461154048
NM_000077.5(CDKN2A):c.85C>A (p.Arg29=) rs1554656382
NM_058195.4(CDKN2A):c.193+1G>A rs1060501262
NM_058195.4(CDKN2A):c.58del (p.Arg19_Val20insTer) rs1563902931
NM_058195.4(CDKN2A):c.92C>T (p.Thr31Met) rs528789830
NM_058195.4(CDKN2A):c.97dup (p.Glu33fs) rs779306249

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