ClinVar Miner

Variants in gene CHRNA1 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
198 15 0 7 12 0 1 19

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 1 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 11 1
likely benign 0 0 11 0 6
benign 0 0 1 6 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)
NM_001039523.3(CHRNA1):c.1035C>T (p.His345=) rs2229957
NM_001039523.3(CHRNA1):c.1077+9G>A rs368959759
NM_001039523.3(CHRNA1):c.111C>T (p.Ser37=) rs886055151
NM_001039523.3(CHRNA1):c.1148A>T (p.Asp383Val) rs6739001
NM_001039523.3(CHRNA1):c.1323G>A (p.Ala441=) rs17838545
NM_001039523.3(CHRNA1):c.1368C>T (p.Leu456=) rs146899588
NM_001039523.3(CHRNA1):c.1369G>A (p.Gly457Arg) rs151081792
NM_001039523.3(CHRNA1):c.1396G>A (p.Gly466Arg) rs768407867
NM_001039523.3(CHRNA1):c.1407C>T (p.Ala469=) rs771587252
NM_001039523.3(CHRNA1):c.204G>A (p.Gln68=) rs886043372
NM_001039523.3(CHRNA1):c.224G>A (p.Arg75His) rs147488907
NM_001039523.3(CHRNA1):c.615+4G>C rs112674580
NM_001039523.3(CHRNA1):c.718G>A (p.Asp240Asn) rs148304857
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001039523.3(CHRNA1):c.798C>T (p.Pro266=) rs189442556
NM_001039523.3(CHRNA1):c.888G>A (p.Leu296=) rs374093236
NM_001039523.3(CHRNA1):c.987C>T (p.Phe329=) rs373005571

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