ClinVar Miner

Variants in gene AHI1 with conflicting interpretations

See also:
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
1424 57 1 36 12 0 8 52

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 10 6 0 0
likely pathogenic 10 0 3 1 1
uncertain significance 6 3 0 12 1
likely benign 0 1 12 1 26
benign 0 1 1 26 0

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_001134831.2(AHI1):c.1780-47C>T rs17053651 0.01944
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_001134831.2(AHI1):c.2962-16A>G rs41287056 0.00707
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001134831.2(AHI1):c.932-10A>G rs114319588 0.00468
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_001134831.2(AHI1):c.2916T>G (p.Ser972=) rs140280929 0.00451
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_001134831.2(AHI1):c.178A>G (p.Thr60Ala) rs115502075 0.00279
NM_001134831.2(AHI1):c.-140+1G>T rs145372075 0.00258
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_001134831.2(AHI1):c.72T>C (p.Ser24=) rs73777558 0.00147
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser) rs199879855 0.00144
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln) rs374009466 0.00032
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00030
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=) rs373772212 0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00006
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3110-22_3110-19del rs71725890
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175

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