ClinVar Miner

Variants in gene CDKN1B with conflicting interpretations

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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
807 64 0 17 21 0 2 33

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 0 1 1 1 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 18 7
likely benign 1 0 18 0 16
benign 0 0 7 16 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_004064.5(CDKN1B):c.543C>G (p.Ala181=) rs140177202 0.00064
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr) rs142833529 0.00057
NM_004064.5(CDKN1B):c.518A>G (p.Asn173Ser) rs141509450 0.00042
NM_004064.5(CDKN1B):c.155T>G (p.Met52Arg) rs543122580 0.00037
NM_004064.5(CDKN1B):c.114C>T (p.His38=) rs141178987 0.00031
NM_004064.5(CDKN1B):c.476-5C>T rs370509436 0.00031
NM_004064.5(CDKN1B):c.-80C>T rs551236750 0.00021
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly) rs546234840 0.00020
NM_004064.5(CDKN1B):c.373T>A (p.Ser125Thr) rs765681672 0.00017
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys) rs373917399 0.00014
NM_004064.5(CDKN1B):c.281C>T (p.Pro94Leu) rs757917082 0.00011
NM_004064.5(CDKN1B):c.125C>T (p.Thr42Ile) rs200422211 0.00009
NM_004064.5(CDKN1B):c.54C>T (p.Ala18=) rs151027466 0.00009
NM_004064.5(CDKN1B):c.234G>A (p.Glu78=) rs751794433 0.00007
NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp) rs139727620 0.00006
NM_004064.5(CDKN1B):c.216C>T (p.Gly72=) rs776643344 0.00004
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267 0.00002
NM_004064.5(CDKN1B):c.279G>A (p.Arg93=) rs766901538 0.00001
NM_004064.5(CDKN1B):c.475+5T>C rs781394293 0.00001
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456
NM_004064.5(CDKN1B):c.-7G>A rs751341214
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)
NM_004064.5(CDKN1B):c.271C>T (p.Pro91Ser) rs769828807
NM_004064.5(CDKN1B):c.277C>T (p.Arg93Trp) rs140167393
NM_004064.5(CDKN1B):c.27G>A (p.Gly9=) rs1060503869
NM_004064.5(CDKN1B):c.283C>G (p.Pro95Ala) rs188579132
NM_004064.5(CDKN1B):c.326T>A (p.Val109Asp) rs2066827
NM_004064.5(CDKN1B):c.372C>T (p.Asn124=) rs760081465
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr) rs137985549
NM_004064.5(CDKN1B):c.449G>C (p.Gly150Ala) rs772818396
NM_004064.5(CDKN1B):c.485C>T (p.Thr162Ile) rs774965131

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