ClinVar Miner

Variants with conflicting interpretations studied for ARID1B-related condition

Minimum review status of the submission for ARID1B-related condition: Collection method of the submission for ARID1B-related condition:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
60 41 0 61 18 0 1 75

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.

All conditions
ARID1B-related condition pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 1 0 3 0
likely benign 0 0 14 0 43
benign 0 0 1 16 0

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition 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
not provided 0 46 0 58 13 0 1 70
not specified 0 24 0 6 5 0 0 11
See cases 0 1 0 1 0 0 0 1
Seizure 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val) rs17318151 0.01456
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=) rs61745451 0.00966
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=) rs146240413 0.00310
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=) rs533182720 0.00257
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=) rs112474841 0.00209
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=) rs61736269 0.00189
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) rs150140314 0.00108
NM_001374828.1(ARID1B):c.963C>T (p.Ala321=) rs533517668 0.00107
NM_001374828.1(ARID1B):c.852G>A (p.Glu284=) rs564924707 0.00085
NM_001374828.1(ARID1B):c.5468A>G (p.Glu1823Gly) rs149841055 0.00081
NM_001374828.1(ARID1B):c.5384A>G (p.Asn1795Ser) rs140177120 0.00079
NM_001374828.1(ARID1B):c.1280C>T (p.Ala427Val) rs530780611 0.00068
NM_001374828.1(ARID1B):c.1771C>T (p.Pro591Ser) rs200682868 0.00062
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_001374828.1(ARID1B):c.2815G>A (p.Gly939Ser) rs145635490 0.00046
NM_001374828.1(ARID1B):c.4989C>T (p.Tyr1663=) rs2068129 0.00042
NM_001374828.1(ARID1B):c.3188A>T (p.Gln1063Leu) rs139620600 0.00038
NM_001374828.1(ARID1B):c.4254T>C (p.Phe1418=) rs368341224 0.00026
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg) rs199674889 0.00026
NM_001374828.1(ARID1B):c.4846A>G (p.Met1616Val) rs142788313 0.00026
NM_001374828.1(ARID1B):c.3997C>G (p.Leu1333Val) rs138482029 0.00025
NM_001374828.1(ARID1B):c.2379T>C (p.His793=) rs370364530 0.00024
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala) rs1455234951 0.00019
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser) rs776745618 0.00018
NM_001374828.1(ARID1B):c.980C>G (p.Pro327Arg) rs775385239 0.00018
NM_001374828.1(ARID1B):c.4603T>G (p.Ser1535Ala) rs145516400 0.00016
NM_001374828.1(ARID1B):c.1452C>T (p.Gly484=) rs977827286 0.00012
NM_001374828.1(ARID1B):c.4440G>A (p.Pro1480=) rs374835455 0.00006
NM_001374828.1(ARID1B):c.5676C>T (p.Asp1892=) rs537400492 0.00004
NM_001374828.1(ARID1B):c.1791+6C>T rs1204011572 0.00001
NM_001374828.1(ARID1B):c.3236-1G>A rs752642190 0.00001
NM_001374828.1(ARID1B):c.1170CGG[10] (p.Gly401_Gly402dup) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[11] (p.Gly402_Ser403insGlyGlyGly)
NM_001374828.1(ARID1B):c.1170CGG[4] (p.Gly399_Gly402del) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[7] (p.Gly402del) rs587779747
NM_001374828.1(ARID1B):c.1194AGG[5] (p.Gly402dup) rs587779748
NM_001374828.1(ARID1B):c.1211GAG[10] (p.Gly410_Gly411dup) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[11] (p.Gly409_Gly411dup) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[4] (p.Gly408_Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[6] (p.Gly410_Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[7] (p.Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[9] (p.Gly411dup) rs747790383
NM_001374828.1(ARID1B):c.1235CAGGAG[1] (p.412AG[1]) rs747438636
NM_001374828.1(ARID1B):c.1235CAGGAG[3] (p.412AG[3]) rs747438636
NM_001374828.1(ARID1B):c.1238GAGCAGGAG[1] (p.413GAG[1]) rs771557031
NM_001374828.1(ARID1B):c.1241C>G (p.Ala414Gly)
NM_001374828.1(ARID1B):c.1244G>C (p.Gly415Ala)
NM_001374828.1(ARID1B):c.1281GGC[5] (p.Ala433dup) rs764418312
NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433dup) rs797045267
NM_001374828.1(ARID1B):c.1619CGG[3] (p.Ala543del) rs757953295
NM_001374828.1(ARID1B):c.1631_1636dup (p.Ala545_Ala546insGlyAla)
NM_001374828.1(ARID1B):c.1942C>A (p.Arg648=) rs143370913
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.3330C>T (p.Pro1110=) rs752231248
NM_001374828.1(ARID1B):c.352TCC[6] (p.Ser124del) rs770512547
NM_001374828.1(ARID1B):c.352TCC[8] (p.Ser124dup) rs770512547
NM_001374828.1(ARID1B):c.4270A>G (p.Met1424Val) rs144029881
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4995G>A (p.Thr1665=)
NM_001374828.1(ARID1B):c.501CCA[4] (p.His172del) rs752012879
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1]) rs767952510
NM_001374828.1(ARID1B):c.5409C>T (p.Leu1803=)
NM_001374828.1(ARID1B):c.591GCA[4] (p.Gln212_Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln207_Gln214del) rs770869529
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln207_Gln214dup) rs770869529
NM_001374828.1(ARID1B):c.612_617dup (p.Gln214_His215insGlnGln)
NM_001374828.1(ARID1B):c.615GCA[10] (p.Gln212_Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.615GCA[8] (p.Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.679_690del (p.Gly227_Ala230del)
NM_001374828.1(ARID1B):c.6904C>G (p.Leu2302Val)
NM_001374828.1(ARID1B):c.981C>T (p.Pro327=)

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