ClinVar Miner

Variants in gene HOGA1 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
181 9 0 8 4 0 7 17

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 7 0 0
likely pathogenic 7 0 2 0 0
uncertain significance 7 2 0 2 2
likely benign 0 0 2 0 1
benign 0 0 2 1 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309
NM_138413.4(HOGA1):c.185A>T (p.His62Leu) rs150812556
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084
NM_138413.4(HOGA1):c.237C>T (p.Gly79=) rs148094180
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589
NM_138413.4(HOGA1):c.700+7C>T rs57616820
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752

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