ClinVar Miner

Variants in gene ABCA3 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
1416 57 0 22 24 0 6 44

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 3 4 0 0
likely pathogenic 3 0 4 0 0
uncertain significance 4 4 0 22 7
likely benign 0 0 22 0 19
benign 0 0 7 19 0

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.2264-17G>A rs45538638 0.02084
NM_001089.3(ABCA3):c.448-14C>G rs62040683 0.01376
NM_001089.3(ABCA3):c.-9A>G rs78286222 0.01064
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00766
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164 0.00403
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832 0.00242
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) rs35161127 0.00184
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239 0.00170
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557 0.00160
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly) rs35089233 0.00117
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120 0.00106
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00088
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala) rs150175668 0.00080
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699 0.00077
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr) rs147278907 0.00075
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His) rs142687030 0.00071
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912 0.00071
NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly) rs151078160 0.00063
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) rs146161376 0.00053
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr) rs149871856 0.00038
NM_001089.3(ABCA3):c.3166G>A (p.Val1056Ile) rs34671771 0.00035
NM_001089.3(ABCA3):c.418A>C (p.Asn140His) rs45447801 0.00032
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229 0.00026
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964 0.00009
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val) rs145483014 0.00008
NM_001089.3(ABCA3):c.2415-4T>G rs201775187 0.00006
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs) rs756855585 0.00002
NM_001089.3(ABCA3):c.1112-20G>A
NM_001089.3(ABCA3):c.115C>G (p.Leu39Val)
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1611+6G>A
NM_001089.3(ABCA3):c.1722C>T (p.Thr574=)
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) rs1022923684
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001089.3(ABCA3):c.537G>C (p.Trp179Cys)

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