ClinVar Miner

Variants in gene ADSL 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
755 43 0 16 16 0 8 37

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 9 5 0 0
likely pathogenic 9 0 4 0 0
uncertain significance 5 4 0 12 6
likely benign 0 0 12 0 7
benign 0 0 6 7 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.358-4G>A rs113199851 0.01950
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_000026.4(ADSL):c.1010+18A>G rs201019280 0.00168
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623 0.00155
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_000026.4(ADSL):c.702-7T>C rs201509960 0.00045
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316 0.00039
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195 0.00036
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158 0.00024
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464 0.00015
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255 0.00013
NM_000026.4(ADSL):c.1200T>C (p.His400=) rs751401941 0.00005
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753 0.00005
NM_000026.4(ADSL):c.1011-9G>C rs780794164 0.00004
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) rs536254357 0.00004
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944 0.00003
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726 0.00003
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943 0.00002
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) rs756210458 0.00002
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys) rs774159147 0.00001
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666 0.00001
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu) rs746180694 0.00001
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831 0.00001
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu) rs1257907226 0.00001
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195 0.00001
NM_000026.4(ADSL):c.1102-6C>G rs758666194
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.502G>A (p.Val168Ile) rs1385675650
NM_000026.4(ADSL):c.581G>A (p.Arg194His) rs755359802
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile) rs1601586359

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