ClinVar Miner

Variants in gene ASAH1 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
782 62 0 14 7 0 6 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 7 3 0 0
likely pathogenic 7 0 3 0 0
uncertain significance 3 3 0 7 0
likely benign 0 0 7 0 7
benign 0 0 0 7 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.666A>G (p.Thr222=) rs34475490 0.00484
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met) rs147233112 0.00158
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) rs147896487 0.00155
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211 0.00098
NM_177924.5(ASAH1):c.382+10A>G rs201735910 0.00061
NM_177924.5(ASAH1):c.457+7G>A rs189892461 0.00045
NM_177924.5(ASAH1):c.1041+19C>A rs17126194 0.00037
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) rs200758704 0.00014
NM_177924.5(ASAH1):c.1154T>C (p.Leu385Pro) rs368345612 0.00011
NM_177924.5(ASAH1):c.219A>G (p.Leu73=) rs141785977 0.00011
NM_177924.5(ASAH1):c.750G>T (p.Gly250=) rs370895103 0.00009
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) rs200455852 0.00004
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter) rs369707059 0.00003
NM_177924.5(ASAH1):c.216+6C>G rs1267356970 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile) rs766257867 0.00001
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) rs137853595
NM_177924.5(ASAH1):c.126-7A>G rs771021569
NM_177924.5(ASAH1):c.183A>G (p.Arg61=) rs559209309
NM_177924.5(ASAH1):c.216+46_216+47insTTA rs34859055
NM_177924.5(ASAH1):c.457+4A>G rs767864356
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) rs756455049
NM_177924.5(ASAH1):c.994G>C (p.Asp332His) rs941670381
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) rs1588974098

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