ClinVar Miner

Variants in gene CHRNA2 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
388 19 1 13 11 0 0 21

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 uncertain significance likely benign benign
pathogenic 1 0 0 0
uncertain significance 0 0 10 5
likely benign 0 10 0 13
benign 0 5 13 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) rs56298562
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu) rs145238683
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) rs376970816
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.4(CHRNA2):c.401G>A (p.Arg134Lys) rs150112824
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=) rs535699325
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553
NM_000742.4(CHRNA2):c.684C>T (p.Ser228=) rs143536618
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) rs56229264
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=) rs76140563
NM_000742.4(CHRNA2):c.913C>T (p.Leu305=) rs114294066
NM_000742.4(CHRNA2):c.987C>T (p.Gly329=) rs147530139

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