ClinVar Miner

Variants in gene ADA 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
169 21 0 20 13 0 12 42

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 17 11 0 1
likely pathogenic 17 0 2 0 0
uncertain significance 11 2 0 12 2
likely benign 0 0 12 0 3
benign 1 0 2 3 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394
NM_000022.4(ADA):c.384G>A (p.Glu128=) rs572092463
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722
NM_000022.4(ADA):c.479-9C>T rs761848284
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) rs121908729
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.822G>A (p.Pro274=) rs562095440
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016
NM_000022.4(ADA):c.864T>G (p.Ala288=) rs146614184
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.975+8G>A rs192148185

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