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:
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
152 26 1 33 10 0 2 41

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 6 1 0 0
likely pathogenic 6 0 0 1 1
uncertain significance 1 0 0 10 3
likely benign 0 1 10 1 27
benign 0 1 3 27 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_001134831.1(AHI1):c.1997A>T (p.Asp666Val) rs863225147
NM_001134831.1(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.1(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134832.1(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_017651.4(AHI1):c.*28G>C rs9494209
NM_017651.4(AHI1):c.-55+1G>T rs145372075
NM_017651.4(AHI1):c.1033T>A (p.Leu345Met) rs200927282
NM_017651.4(AHI1):c.1152-11T>G rs113317693
NM_017651.4(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_017651.4(AHI1):c.178A>G (p.Thr60Ala) rs115502075
NM_017651.4(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_017651.4(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_017651.4(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_017651.4(AHI1):c.2299G>T (p.Val767Leu) rs755688765
NM_017651.4(AHI1):c.2382A>G (p.Lys794=) rs191682790
NM_017651.4(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_017651.4(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_017651.4(AHI1):c.2624-6A>G rs41288015
NM_017651.4(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_017651.4(AHI1):c.2916T>G (p.Ser972=) rs140280929
NM_017651.4(AHI1):c.2961+7_2961+21delTTATTTTATGCAGTTinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_017651.4(AHI1):c.2962-16A>G rs41287056
NM_017651.4(AHI1):c.2988delA (p.Val997Serfs) rs755246809
NM_017651.4(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_017651.4(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_017651.4(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_017651.4(AHI1):c.3110-22_3110-19delTCAC rs71725890
NM_017651.4(AHI1):c.3164C>T (p.Thr1055Met) rs73559947
NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017651.4(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_017651.4(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_017651.4(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_017651.4(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_017651.4(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_017651.4(AHI1):c.72T>C (p.Ser24=) rs73777558
NM_017651.4(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_017651.4(AHI1):c.932-10A>G rs114319588
NM_017651.4(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_017651.4(AHI1):c.989A>G (p.Asp330Gly) rs200201741

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