ClinVar Miner

Variants in gene APTX 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
229 25 0 18 9 0 1 26

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 0 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 0 1 0 9 2
likely benign 0 0 9 0 15
benign 0 0 2 15 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06469
NM_001195248.2(APTX):c.318C>T (p.Asn106=) rs79254654 0.00842
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_001195248.2(APTX):c.*187G>C rs113638548 0.00570
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_001195248.2(APTX):c.*606G>A rs111430445 0.00567
NM_001195248.2(APTX):c.457A>G (p.Lys153Glu) rs34634937 0.00350
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622 0.00183
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00120
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559 0.00063
NM_001195248.2(APTX):c.-5+1G>T rs146487634 0.00062
NM_001195248.2(APTX):c.134-12A>C rs113391831 0.00057
NM_001195248.2(APTX):c.770+10G>T rs111392103 0.00054
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924 0.00011
NM_001195248.2(APTX):c.771-5A>G rs751250105 0.00006
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001195248.2(APTX):c.734G>A (p.Arg245His) rs747334007 0.00001
NM_001195248.2(APTX):c.484-25_484-10del rs774597262
NM_001195248.2(APTX):c.484-25_484-3del rs779869639
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-25_484-9del rs749477339
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro) rs267606665
NM_001195248.2(APTX):c.835T>C (p.Trp279Arg) rs773393618

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