ClinVar Miner

Variants in gene AHI1 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:
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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
197 32 2 38 15 1 6 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 association drug response
pathogenic 0 9 5 1 1 1 1
likely pathogenic 8 0 0 1 1 0 0
uncertain significance 4 0 1 14 4 0 0
likely benign 0 1 14 1 29 0 0
benign 0 1 4 29 0 0 0

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.-140+1G>T rs145372075
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001134831.2(AHI1):c.1780-47C>T rs17053651
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362
NM_001134831.2(AHI1):c.178A>G (p.Thr60Ala) rs115502075
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) rs863225147
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) rs755688765
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2490G>A (p.Arg830=) rs368942099
NM_001134831.2(AHI1):c.2492+1G>A
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser) rs199879855
NM_001134831.2(AHI1):c.2765-9T>C rs374852342
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.2916T>G (p.Ser972=) rs140280929
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001134831.2(AHI1):c.2962-16A>G rs41287056
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3110-22_3110-19del rs71725890
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_001134831.2(AHI1):c.72T>C (p.Ser24=) rs73777558
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_001134831.2(AHI1):c.932-10A>G rs114319588
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741
NM_017651.4(AHI1):c.3368C>T rs117447608
Single allele

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