ClinVar Miner

List of variants in gene ANO5 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.180+223G>A rs4620717 0.83192
NM_213599.3(ANO5):c.-136G>C rs12792259 0.83191
NM_213599.3(ANO5):c.*3178C>G rs6483841 0.72187
NM_213599.3(ANO5):c.180+279T>C rs4543996 0.69131
NM_213599.3(ANO5):c.138+169G>A rs4922980 0.67443
NM_213599.3(ANO5):c.138+206T>C rs4922981 0.67232
NM_213599.3(ANO5):c.364-300T>C rs4617581 0.67070
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
NM_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_213599.3(ANO5):c.2520+25G>C rs11026488 0.16418
NM_213599.3(ANO5):c.879-76T>A rs7104736 0.16088
NM_213599.3(ANO5):c.762+87G>A rs11026471 0.15642
NM_213599.3(ANO5):c.762+321T>C rs10833726 0.15632
NM_213599.3(ANO5):c.649-114T>A rs11820954 0.15623
NM_213599.3(ANO5):c.649-166A>G rs4534588 0.15597
NM_213599.3(ANO5):c.648+257G>A rs7951567 0.14470
NM_213599.3(ANO5):c.649-249C>G rs4254072 0.14172
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_213599.3(ANO5):c.364-283T>C rs11827827 0.09032
NM_213599.3(ANO5):c.2415-148A>G rs7124079 0.07502
NM_213599.3(ANO5):c.1630+181A>G rs7108392 0.07152
NM_213599.3(ANO5):c.88-281C>A rs75162101 0.06518
NM_213599.3(ANO5):c.1333-238T>C rs7937378 0.06446
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_213599.3(ANO5):c.40+64G>T rs112145196 0.06408
NM_213599.3(ANO5):c.138+166G>A rs77546698 0.05088
NM_213599.3(ANO5):c.*3152G>A rs79486036 0.04921
NM_213599.3(ANO5):c.2520+206T>C rs75315439 0.04395
NM_213599.3(ANO5):c.*3121A>G rs35827261 0.04156
NM_213599.3(ANO5):c.139-226T>G rs116738367 0.03636
NM_213599.3(ANO5):c.1333-303C>G rs74834281 0.03179
NM_213599.3(ANO5):c.1898+182T>A rs114770419 0.03053
NM_213599.3(ANO5):c.648+208A>G rs75126999 0.03014
NM_213599.3(ANO5):c.879-132A>G rs116274417 0.03008
NM_213599.3(ANO5):c.1898+29G>T rs76084798 0.02917
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_213599.3(ANO5):c.*554C>T rs117180492 0.02476
NM_213599.3(ANO5):c.181-318T>C rs79402446 0.02464
NM_213599.3(ANO5):c.1013+143del rs148611587 0.02223
NM_213599.3(ANO5):c.1630+216A>G rs114322625 0.02219
NM_213599.3(ANO5):c.1631-127C>T rs7939120 0.02219
NM_213599.3(ANO5):c.1333-264G>A rs80249417 0.02213
NM_213599.3(ANO5):c.1120-24A>T rs11026476 0.02147
NM_213599.3(ANO5):c.878+215C>A rs77977104 0.01976
NM_213599.3(ANO5):c.*3168C>T rs35892535 0.01843
NM_213599.3(ANO5):c.2029+66_2029+76del rs200975404 0.01833
NM_213599.3(ANO5):c.2029+147A>G rs7925115 0.01786
NM_213599.3(ANO5):c.2235+138G>A rs77581966 0.01782
NM_213599.3(ANO5):c.2029+238A>C rs7925231 0.01781
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_213599.3(ANO5):c.1899-288C>T rs80267696 0.01768
NM_213599.3(ANO5):c.*2095G>A rs142192440 0.01610
NM_213599.3(ANO5):c.181-220T>C rs80159991 0.01552
NM_213599.3(ANO5):c.1013+51A>G rs80083989 0.01456
NM_213599.3(ANO5):c.*3155T>C rs78929863 0.01340
NM_213599.3(ANO5):c.879-263G>A rs113327729 0.01300
NM_213599.3(ANO5):c.2521-29G>A rs12282177 0.01265
NM_213599.3(ANO5):c.*1328C>T rs78089375 0.01250
NM_213599.3(ANO5):c.-261A>C rs114897158 0.01250
NM_213599.3(ANO5):c.*1661C>T rs12284506 0.01249
NM_213599.3(ANO5):c.*930C>T rs78428314 0.01204
NM_213599.3(ANO5):c.364-284A>G rs75902503 0.01174
NM_213599.3(ANO5):c.1800+23A>G rs77153376 0.01173
NM_213599.3(ANO5):c.139-198G>A rs113995629 0.01026
NM_213599.3(ANO5):c.1898+225A>C rs149324405 0.01026
NM_213599.3(ANO5):c.*2251A>G rs114636071 0.01015
NM_213599.3(ANO5):c.*2723A>T rs116278349 0.01013
NM_213599.3(ANO5):c.1332+242G>A rs139317569 0.01011
NM_213599.3(ANO5):c.*2674A>C rs115846873 0.01002
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00971
NM_213599.3(ANO5):c.2414+219G>A rs145690491 0.00928
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_213599.3(ANO5):c.*1429A>G rs78143145 0.00911
NM_213599.3(ANO5):c.763-46G>T rs76657996 0.00909
NM_213599.3(ANO5):c.*621C>T rs573468350 0.00851
NM_213599.3(ANO5):c.*619C>T rs563154109 0.00844
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_213599.3(ANO5):c.1181-48T>A rs150412089 0.00767
NM_213599.3(ANO5):c.295-275A>G rs150221273 0.00749
NM_213599.3(ANO5):c.763-215A>T rs187400370 0.00728
NM_213599.3(ANO5):c.363+130C>T rs187357703 0.00727
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser) rs138144479 0.00727
NM_213599.3(ANO5):c.*3350T>G rs144806967 0.00723
NM_213599.3(ANO5):c.*2357A>T rs151218419 0.00715
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_213599.3(ANO5):c.*3564A>T rs7933026 0.00682
NM_213599.3(ANO5):c.1180+222C>A rs116027806 0.00677
NM_213599.3(ANO5):c.87+261G>T rs115533519 0.00650
NM_213599.3(ANO5):c.87+137A>G rs74810265 0.00630
NM_213599.3(ANO5):c.138+106C>G rs112938771 0.00629
NM_213599.3(ANO5):c.*2869A>G rs115249135 0.00608
NM_213599.3(ANO5):c.648+248T>C rs114134818 0.00604
NM_213599.3(ANO5):c.1407+125T>C rs116670964 0.00586
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_213599.3(ANO5):c.*166G>T rs145219772 0.00444
NM_213599.3(ANO5):c.*111T>C rs543256905 0.00442
NM_213599.3(ANO5):c.*2711T>C rs137887236 0.00440
NM_213599.3(ANO5):c.*948C>T rs189525296 0.00434
NM_213599.3(ANO5):c.2236-214A>C rs139108899 0.00417
NM_213599.3(ANO5):c.1631-35G>A rs72982041 0.00334
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00320
NM_213599.3(ANO5):c.1180+238T>C rs146255428 0.00294
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_213599.3(ANO5):c.648+217T>C rs188249614 0.00290
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_213599.3(ANO5):c.1120-23T>A rs199664990 0.00216
NM_213599.3(ANO5):c.879-41A>T rs144743605 0.00215
NM_213599.3(ANO5):c.1095A>G (p.Leu365=) rs35804601 0.00183
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_213599.3(ANO5):c.2521-7C>T rs201438159 0.00109
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_213599.3(ANO5):c.294G>A (p.Ala98=) rs142858990 0.00065
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe) rs190937193 0.00041
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_213599.3(ANO5):c.689A>G (p.Asp230Gly) rs139259793 0.00025
NM_213599.3(ANO5):c.181-42T>A rs548034750 0.00024
NM_213599.3(ANO5):c.149G>A (p.Arg50Gln) rs370084681 0.00021
NM_213599.3(ANO5):c.1747G>A (p.Val583Ile) rs375225649 0.00018
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_213599.3(ANO5):c.1036A>C (p.Ile346Leu) rs146233625 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_213599.3(ANO5):c.1364G>A (p.Arg455His) rs772899863 0.00011
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_213599.3(ANO5):c.478C>T (p.Arg160Cys) rs200531045 0.00010
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter) rs566415362 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_213599.3(ANO5):c.443G>T (p.Gly148Val) rs912120379 0.00004
NM_213599.3(ANO5):c.583C>T (p.Arg195Trp) rs149040903 0.00004
NM_213599.3(ANO5):c.584G>A (p.Arg195Gln) rs143078257 0.00004
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln) rs749698519 0.00003
NM_213599.3(ANO5):c.276A>G (p.Lys92=) rs201678262 0.00003
NM_213599.3(ANO5):c.736T>C (p.Tyr246His) rs1219063834 0.00003
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe) rs772929002 0.00003
NM_213599.3(ANO5):c.170G>A (p.Arg57Gln) rs781702630 0.00002
NM_213599.3(ANO5):c.1921C>T (p.Arg641Cys) rs372674175 0.00002
NM_213599.3(ANO5):c.2623A>C (p.Ile875Leu) rs1131691364 0.00002
NM_213599.3(ANO5):c.845A>G (p.Tyr282Cys) rs561417561 0.00002
NM_213599.3(ANO5):c.138+14A>G rs1275834009 0.00001
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp) rs529961953 0.00001
NM_213599.3(ANO5):c.1630+5del rs1064795273 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213599.3(ANO5):c.181-16T>C rs762760550 0.00001
NM_213599.3(ANO5):c.181-19T>C rs1306471349 0.00001
NM_213599.3(ANO5):c.2139C>T (p.Thr713=) rs767479331 0.00001
NM_213599.3(ANO5):c.2175T>C (p.His725=) rs1057522538 0.00001
NM_213599.3(ANO5):c.2185G>A (p.Val729Ile) rs778772732 0.00001
NM_213599.3(ANO5):c.364-5T>C rs1590245750 0.00001
NM_213599.3(ANO5):c.454C>G (p.Pro152Ala) rs995637790 0.00001
NM_213599.3(ANO5):c.632C>T (p.Ser211Leu) rs142939381 0.00001
NM_213599.3(ANO5):c.637A>G (p.Arg213Gly) rs1490746741 0.00001
NM_213599.3(ANO5):c.650T>C (p.Val217Ala) rs749876289 0.00001
NM_213599.3(ANO5):c.671G>C (p.Cys224Ser) rs749915913 0.00001
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter) rs762035813 0.00001
NM_213599.3(ANO5):c.836G>A (p.Arg279Gln) rs201329725 0.00001
NM_213599.3(ANO5):c.*112_*113del rs5790246
NM_213599.3(ANO5):c.*113del rs5790246
NM_213599.3(ANO5):c.*1762del rs398015552
NM_213599.3(ANO5):c.*1890AAGA[1] rs397786204
NM_213599.3(ANO5):c.*3290G>C rs142126223
NM_213599.3(ANO5):c.*3481dup rs147581685
NM_213599.3(ANO5):c.*96TTTCTTTTTTTTTTT[1] rs1453083663
NM_213599.3(ANO5):c.-217G>T rs73479393
NM_213599.3(ANO5):c.1013+169T>G rs116081719
NM_213599.3(ANO5):c.1081G>C (p.Asp361His) rs1554929295
NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter) rs1554929301
NM_213599.3(ANO5):c.11C>A (p.Pro4Gln) rs376116831
NM_213599.3(ANO5):c.1222C>T (p.Leu408=) rs997655691
NM_213599.3(ANO5):c.1332+6C>A rs752170991
NM_213599.3(ANO5):c.138+149dup rs141135840
NM_213599.3(ANO5):c.139-164del rs60388835
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.3(ANO5):c.1630+219_1630+221dup rs36077990
NM_213599.3(ANO5):c.1630+220_1630+221dup rs36077990
NM_213599.3(ANO5):c.1630+221dup rs36077990
NM_213599.3(ANO5):c.1630+228T>A rs7124796
NM_213599.3(ANO5):c.1630+228T>G rs7124796
NM_213599.3(ANO5):c.1631-12_1631-2del rs886043327
NM_213599.3(ANO5):c.1631-297del rs141757784
NM_213599.3(ANO5):c.1631-4_1631-2del
NM_213599.3(ANO5):c.180+313G>A rs144271338
NM_213599.3(ANO5):c.181-18C>T rs1350082012
NM_213599.3(ANO5):c.1832C>A (p.Thr611Lys) rs2133750614
NM_213599.3(ANO5):c.1898+259A>G rs115214237
NM_213599.3(ANO5):c.1899-51C>T rs140475600
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.1925G>T (p.Arg642Leu) rs199532484
NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys) rs563666662
NM_213599.3(ANO5):c.1962A>G (p.Arg654=) rs1057521970
NM_213599.3(ANO5):c.1981C>T (p.Leu661Phe) rs944857212
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.2029+219C>T rs7925323
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)
NM_213599.3(ANO5):c.2170G>A (p.Ala724Thr)
NM_213599.3(ANO5):c.2236-10del rs72105710
NM_213599.3(ANO5):c.2236-10dup rs72105710
NM_213599.3(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.3(ANO5):c.2238C>T (p.Ala746=) rs781715511
NM_213599.3(ANO5):c.2415-22del rs5790245
NM_213599.3(ANO5):c.2415-7T>C rs1554935084
NM_213599.3(ANO5):c.2498T>G (p.Met833Arg)
NM_213599.3(ANO5):c.2551G>T (p.Ala851Ser) rs2133810704
NM_213599.3(ANO5):c.2639A>G (p.Glu880Gly) rs1554935957
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.265_267delinsTAC (p.Asp89Tyr) rs2133588821
NM_213599.3(ANO5):c.2699T>A (p.Met900Lys) rs1395263508
NM_213599.3(ANO5):c.295-16T>A rs746448319
NM_213599.3(ANO5):c.295-8dup rs778435515
NM_213599.3(ANO5):c.299del (p.Arg100fs) rs1064793358
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.364-166_364-165del rs34515704
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.373G>C (p.Asp125His) rs1277829538
NM_213599.3(ANO5):c.385T>C (p.Tyr129His) rs370952911
NM_213599.3(ANO5):c.41-15_41-12del rs746608278
NM_213599.3(ANO5):c.598C>T (p.Leu200Phe) rs1323200040
NM_213599.3(ANO5):c.679G>A (p.Gly227Ser) rs867578091
NM_213599.3(ANO5):c.859C>G (p.Gln287Glu) rs1554927050
NM_213599.3(ANO5):c.878+17G>A rs749031281
NM_213599.3(ANO5):c.879-7_879-6del rs143977836
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626

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