ClinVar Miner

Variants in gene ABCA12 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:
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
1010 42 0 25 16 0 2 39

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 6 2 0 0
likely pathogenic 6 0 1 0 0
uncertain significance 2 1 0 14 5
likely benign 0 0 14 0 19
benign 0 0 5 19 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) rs7560008 0.99785
NM_173076.3(ABCA12):c.5617G>A (p.Val1873Ile) rs114258385 0.00759
NM_173076.3(ABCA12):c.4225A>G (p.Ile1409Val) rs149610963 0.00560
NM_173076.3(ABCA12):c.5361C>T (p.Ser1787=) rs147656220 0.00267
NM_173076.3(ABCA12):c.2868T>G (p.Val956=) rs141615275 0.00154
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_173076.3(ABCA12):c.1141G>C (p.Val381Leu) rs143513000 0.00105
NM_173076.3(ABCA12):c.1743C>G (p.Asp581Glu) rs144534912 0.00104
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu) rs141077206 0.00092
NM_173076.3(ABCA12):c.1062-8T>A rs190613499 0.00082
NM_173076.3(ABCA12):c.5221C>T (p.Arg1741Cys) rs141036904 0.00058
NM_173076.3(ABCA12):c.3949A>G (p.Met1317Val) rs145178648 0.00057
NM_173076.3(ABCA12):c.5747C>T (p.Thr1916Ile) rs373276045 0.00039
NM_173076.3(ABCA12):c.2945A>C (p.Lys982Thr) rs142196906 0.00037
NM_173076.3(ABCA12):c.3276A>G (p.Lys1092=) rs150510675 0.00033
NM_173076.3(ABCA12):c.1222T>C (p.Ser408Pro) rs189141015 0.00022
NM_173076.3(ABCA12):c.4707C>T (p.Gly1569=) rs202141656 0.00020
NM_173076.3(ABCA12):c.627A>C (p.Lys209Asn) rs149882663 0.00014
NM_173076.3(ABCA12):c.2744C>T (p.Ser915Phe) rs139223000 0.00011
NM_173076.3(ABCA12):c.1446A>C (p.Glu482Asp) rs368135271 0.00009
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_173076.3(ABCA12):c.4873A>G (p.Thr1625Ala) rs553840038 0.00004
NM_173076.3(ABCA12):c.3977-4C>T rs140122864 0.00003
NM_173076.3(ABCA12):c.4614C>T (p.Asp1538=) rs540623115 0.00003
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser) rs28940568 0.00002
NM_173076.3(ABCA12):c.212T>A (p.Leu71Gln) rs776056801 0.00001
NM_173076.3(ABCA12):c.3456G>A (p.Ser1152=) rs1249431423 0.00001
NM_173076.3(ABCA12):c.899A>G (p.Tyr300Cys) rs778915456 0.00001
NM_173076.3(ABCA12):c.1462C>T (p.Leu488=) rs574023538
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro) rs762065937
NM_173076.3(ABCA12):c.2139C>T (p.Asn713=)
NM_173076.3(ABCA12):c.2273dup (p.Leu758fs) rs1064794286
NM_173076.3(ABCA12):c.2296C>T (p.Gln766Ter) rs772046102
NM_173076.3(ABCA12):c.2638G>C (p.Val880Leu) rs146002078
NM_173076.3(ABCA12):c.4065T>C (p.Tyr1355=)
NM_173076.3(ABCA12):c.4689C>T (p.Tyr1563=)
NM_173076.3(ABCA12):c.5381+1G>C rs1553523037
NM_173076.3(ABCA12):c.746T>C (p.Met249Thr)

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