ClinVar Miner

List of variants in gene AHI1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NC_000006.12:g.135497787A>G rs13197301 0.03000
NM_001134831.2(AHI1):c.2623+85A>G rs13218824 0.02783
NM_001134831.2(AHI1):c.3426+68C>A rs114874016 0.02524
NM_001134831.2(AHI1):c.2037-186_2037-185del rs144408389 0.02453
NM_001134831.2(AHI1):c.1627-92T>A rs41288019 0.02442
NM_001134831.2(AHI1):c.2266+152A>G rs2273760 0.02400
NM_001134831.2(AHI1):c.2765-299A>G rs76916464 0.02373
NM_001134831.2(AHI1):c.2373+336T>C rs72980225 0.02344
NM_001134831.2(AHI1):c.2989-233C>G rs75876608 0.02262
NM_001134831.2(AHI1):c.932-115C>T rs77900254 0.02025
NM_001134831.2(AHI1):c.1780-47C>T rs17053651 0.02020
NM_001134831.2(AHI1):c.1152-51C>T rs4896147 0.01951
NM_001134831.2(AHI1):c.750-261C>A rs78005878 0.01712
NM_001134831.2(AHI1):c.1344+218C>G rs117675291 0.01634
NM_001134831.2(AHI1):c.1151+233G>A rs58999888 0.01582
NM_001134831.2(AHI1):c.1152-207A>G rs17064536 0.01328
NM_001134831.2(AHI1):c.11-318C>G rs112416530 0.01310
NM_001134831.2(AHI1):c.3109+6828G>A rs17064487 0.01263
NM_001134831.2(AHI1):c.3110-186G>C rs73559948 0.01260
NM_001134831.2(AHI1):c.1440+85A>G rs17064529 0.01228
NM_001134831.2(AHI1):c.11-315G>A rs113728995 0.01211
NM_001134831.2(AHI1):c.1627-127A>G rs17064519 0.01190
NM_001134831.2(AHI1):c.2374-252G>A rs139932543 0.01184
NM_001134831.2(AHI1):c.3589-209G>A rs113719301 0.01140
NM_001134831.2(AHI1):c.1151+246T>C rs112639888 0.01120
NM_001134831.2(AHI1):c.1152-70A>G rs112172401 0.01118
NM_001134831.2(AHI1):c.1344+160C>T rs79434239 0.01084
NM_001134831.2(AHI1):c.1913-153G>A rs113547855 0.01056
NM_001134831.2(AHI1):c.2623+289G>A rs114407050 0.01044
NM_001134831.2(AHI1):c.750-88C>T rs41288023 0.00969
NM_001134831.2(AHI1):c.1441-290C>T rs148361559 0.00942
NM_001134831.2(AHI1):c.3109+262C>T rs111555573 0.00878
NM_001134831.2(AHI1):c.2623+183T>A rs17707943 0.00858
NM_001134831.2(AHI1):c.2989-135C>G rs12111490 0.00839
NM_001134831.2(AHI1):c.11-206A>G rs115606371 0.00766
NM_001134831.2(AHI1):c.1152-254A>G rs115452295 0.00726
NM_001134831.2(AHI1):c.3109+6693C>A rs2064429 0.00650
NM_001134831.2(AHI1):c.2374-274T>A rs143250529 0.00609
NM_001134831.2(AHI1):c.2624-266C>T rs74902149 0.00498
NM_001134831.2(AHI1):c.2764+155G>T rs111943924 0.00428
NM_001134831.2(AHI1):c.2623+33G>A rs149587594 0.00407
NM_001134831.2(AHI1):c.2962-132G>A rs7742466 0.00396
NM_001134831.2(AHI1):c.1779+307G>A rs76143087 0.00374
NM_001134831.2(AHI1):c.11-45T>C rs146965488 0.00339
NM_001134831.2(AHI1):c.1780-277T>A rs187137908 0.00319
NM_001134831.2(AHI1):c.2267-300A>G rs145243153 0.00308
NM_001134831.2(AHI1):c.1779+241A>G rs146780483 0.00306
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.750-244G>A rs145643271 0.00256
NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile) rs184236039 0.00236
NM_001134831.2(AHI1):c.3485+43G>C rs73776470 0.00226
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=) rs36069919 0.00187
NM_001134831.2(AHI1):c.2490G>A (p.Arg830=) rs368942099 0.00163
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_001134831.2(AHI1):c.72T>C (p.Ser24=) rs73777558 0.00137
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00103
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001134831.2(AHI1):c.990T>C (p.Asp330=) rs376654503 0.00050
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221 0.00037
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00029
NM_001134831.2(AHI1):c.9A>G (p.Thr3=) rs761022642 0.00013
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704 0.00010
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581 0.00009
NM_001134831.2(AHI1):c.1593C>T (p.Tyr531=) rs370332260 0.00007
NM_001134831.2(AHI1):c.3589-16G>A rs201034412 0.00007
NM_001134831.2(AHI1):c.573A>C (p.Ala191=) rs200993978 0.00007
NM_001134831.2(AHI1):c.3192G>A (p.Ala1064=) rs371494868 0.00004
NM_001134831.2(AHI1):c.2036+20A>G rs757547033 0.00002
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=) rs886038629 0.00001
NM_001134831.2(AHI1):c.3110-13T>C rs751738538 0.00001
NM_001134831.2(AHI1):c.749+19A>G rs73777548 0.00001
NM_001134831.2(AHI1):c.1152-7dup rs773371042
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.135+239_135+260dup rs796257731
NM_001134831.2(AHI1):c.2266+260T>A rs79181598
NM_001134831.2(AHI1):c.2493-289C>A rs148587323
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001134831.2(AHI1):c.2962-274A>T rs56195115
NM_001134831.2(AHI1):c.3109+6630_3109+6641del rs148672318
NM_001134831.2(AHI1):c.3427-259del rs35584012
NM_001134831.2(AHI1):c.3427-276_3427-274dup rs35584012
NM_001134831.2(AHI1):c.3427-8_3427-6del rs559510247
NM_001134831.2(AHI1):c.3485+159_3485+160del rs376404275
NM_001134831.2(AHI1):c.749+98C>G rs17064562

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