ClinVar Miner

List of variants in gene AHI1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_001134831.2(AHI1):c.3485+38G>C rs4896141 0.23072
NM_001134831.2(AHI1):c.3165+42G>C rs7772864 0.06222
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
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.3579T>C (p.Thr1193=) rs115338154 0.00537
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.2623+33G>A rs149587594 0.00430
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.11-45T>C rs146965488 0.00339
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.3485+43G>C rs73776470 0.00246
NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile) rs184236039 0.00236
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 0.00147
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.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001134831.2(AHI1):c.135+41G>A rs368840462 0.00061
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp) rs201790260 0.00033
NM_001134831.2(AHI1):c.2373+18A>G rs371919793 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.1415G>A (p.Arg472Gln) rs770605375 0.00014
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.3033A>G (p.Ser1011=) rs372030704 0.00010
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001134831.2(AHI1):c.1593C>T (p.Tyr531=) rs370332260 0.00007
NM_001134831.2(AHI1):c.573A>C (p.Ala191=) rs200993978 0.00007
NM_001134831.2(AHI1):c.2037-7T>C rs539801988 0.00005
NM_001134831.2(AHI1):c.2492+15G>A rs535243555 0.00004
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=) rs886038629 0.00001
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) rs755688765 0.00001
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792 0.00001
NM_001134831.2(AHI1):c.3328+17C>G rs756947602 0.00001
NM_001134831.2(AHI1):c.749+19A>G rs73777548 0.00001
GRCh37/hg19 6q23.3(chr6:135710693-135735779)
GRCh37/hg19 6q23.3(chr6:135711195-135740496)
NC_000006.11:g.(135679326_135715913)_(135732683_135748304)del
NC_000006.11:g.(135726116_135732485)_(135818904_?)dup
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.1152-7dup rs773371042
NM_001134831.2(AHI1):c.1253C>A (p.Pro418Gln) rs2128077398
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.2036+20A>G rs757547033
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2374-12del rs766929085
NM_001134831.2(AHI1):c.2623+10dup rs760987188
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3110-22_3110-19del rs71725890
NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)
NM_001134831.2(AHI1):c.3485+13_3485+15del rs540849894
NM_001134831.2(AHI1):c.3486-10C>T
NM_001134831.2(AHI1):c.399G>T (p.Val133=) rs886038630
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile) rs777420094

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