ClinVar Miner

Variants in gene CHRNA4 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 Variants with at least 2 submissions 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 kind of conflict
198 52 2 31 27 2 1 54

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 protective
pathogenic 2 1 1 0 0 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 1 0 0 25 8 0
likely benign 0 0 25 0 30 2
benign 0 0 8 30 0 2
protective 0 0 0 2 2 0

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_000744.6(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056
NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000744.6(CHRNA4):c.1047G>A (p.Leu349=) rs75593857
NM_000744.6(CHRNA4):c.1053C>T (p.Ile351=) rs61737042
NM_000744.6(CHRNA4):c.1087G>A (p.Val363Met) rs121912266
NM_000744.6(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652
NM_000744.6(CHRNA4):c.1143C>T (p.Ala381=) rs75221202
NM_000744.6(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.6(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.6(CHRNA4):c.1227T>C (p.Cys409=) rs2229960
NM_000744.6(CHRNA4):c.1227_1228invTG (p.Val410Ile)
NM_000744.6(CHRNA4):c.1228G>A (p.Val410Ile) rs121912272
NM_000744.6(CHRNA4):c.1245G>A (p.Pro415=) rs200164578
NM_000744.6(CHRNA4):c.1269G>C (p.Lys423Asn) rs199916140
NM_000744.6(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000744.6(CHRNA4):c.1353G>A (p.Pro451=) rs113168860
NM_000744.6(CHRNA4):c.1359C>T (p.His453=) rs121912276
NM_000744.6(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886
NM_000744.6(CHRNA4):c.1376G>A (p.Gly459Glu) rs753201154
NM_000744.6(CHRNA4):c.138C>T (p.Ser46=) rs200705061
NM_000744.6(CHRNA4):c.1401C>T (p.Ser467=) rs45569837
NM_000744.6(CHRNA4):c.1415C>T (p.Ser472Phe) rs534477048
NM_000744.6(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225
NM_000744.6(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498
NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.6(CHRNA4):c.1538G>A (p.Arg513His) rs868845088
NM_000744.6(CHRNA4):c.1550C>T (p.Ser517Leu) rs45622132
NM_000744.6(CHRNA4):c.1560C>T (p.Leu520=) rs142646795
NM_000744.6(CHRNA4):c.1584G>A (p.Pro528=) rs199783192
NM_000744.6(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.6(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282
NM_000744.6(CHRNA4):c.1635G>A (p.Thr545=) rs121912283
NM_000744.6(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239
NM_000744.6(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_000744.6(CHRNA4):c.1662G>A (p.Pro554=) rs121912284
NM_000744.6(CHRNA4):c.1711G>A (p.Val571Ile) rs121912285
NM_000744.6(CHRNA4):c.1726G>C (p.Asp576His) rs537904499
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_000744.6(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.6(CHRNA4):c.258C>T (p.Asn86=) rs140239470
NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000744.6(CHRNA4):c.296G>A (p.Arg99His) rs143103435
NM_000744.6(CHRNA4):c.402G>A (p.Ala134=) rs201488442
NM_000744.6(CHRNA4):c.492C>T (p.Asp164=) rs200259564
NM_000744.6(CHRNA4):c.639T>C (p.Asp213=) rs1044393
NM_000744.6(CHRNA4):c.678T>C (p.Cys226=) rs1044394
NM_000744.6(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.6(CHRNA4):c.729G>A (p.Pro243=) rs121912253
NM_000744.6(CHRNA4):c.77-4G>A rs201123897
NM_000744.6(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.6(CHRNA4):c.858C>T (p.Thr286=) rs121912257
NM_000744.6(CHRNA4):c.876C>T (p.Ile292=) rs139694653
NM_000744.6(CHRNA4):c.978C>T (p.Phe326=) rs76270730

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