ClinVar Miner

Variants in gene ANKRD1 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
329 106 0 30 26 0 1 49

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 25 9
likely benign 0 25 0 30
benign 0 9 30 0

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_014391.3(ANKRD1):c.208-15G>A rs116511484 0.00184
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00161
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_014391.3(ANKRD1):c.369G>A (p.Thr123=) rs148979787 0.00069
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu) rs201398260 0.00043
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr) rs183061595 0.00039
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser) rs148189486 0.00037
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_014391.3(ANKRD1):c.652-10A>T rs397517252 0.00023
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val) rs150266349 0.00019
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met) rs142354133 0.00017
NM_014391.3(ANKRD1):c.603T>G (p.Val201=) rs781049118 0.00015
NM_014391.3(ANKRD1):c.750+17G>A rs373898620 0.00010
NM_014391.3(ANKRD1):c.108T>C (p.Ala36=) rs145211719 0.00009
NM_014391.3(ANKRD1):c.27+4T>A rs376540175 0.00008
NM_014391.3(ANKRD1):c.751-4C>A rs780419708 0.00008
NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His) rs377074932 0.00007
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_014391.3(ANKRD1):c.545G>A (p.Arg182His) rs530739375 0.00004
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val) rs144770680 0.00004
NM_014391.3(ANKRD1):c.652-8T>C rs753205311 0.00002
NM_014391.3(ANKRD1):c.193C>A (p.Gln65Lys) rs139169078 0.00001
NM_014391.3(ANKRD1):c.256G>C (p.Asp86His) rs573892607 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys) rs786205461 0.00001
NM_014391.3(ANKRD1):c.907T>C (p.Phe303Leu) rs377661125 0.00001
NM_014391.3(ANKRD1):c.154C>T (p.Pro52Ser) rs397517248
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) rs397517249
NM_014391.3(ANKRD1):c.346-11T>A rs1371295947
NM_014391.3(ANKRD1):c.346-12_346-11insTATA rs766545285
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-19_346-18del rs398014415
NM_014391.3(ANKRD1):c.346-21ATTT[2] rs397517250
NM_014391.3(ANKRD1):c.346-27_346-12del rs751818504
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014391.3(ANKRD1):c.346-31_346-12del rs750974250
NM_014391.3(ANKRD1):c.346-43AT[11] rs60406118
NM_014391.3(ANKRD1):c.346-43AT[13] rs60406118
NM_014391.3(ANKRD1):c.346-43AT[15] rs60406118
NM_014391.3(ANKRD1):c.346-43AT[9] rs60406118
NM_014391.3(ANKRD1):c.553-3T>C rs1554827672
NM_014391.3(ANKRD1):c.652-13del rs3839929

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