ClinVar Miner

List of variants in gene ANO5 studied for Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L

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Gene type:
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Total variants: 212
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HGVS dbSNP
NC_000011.10:g.(?_22193483)_(22226062_?)del
NC_000011.10:g.(?_22193483)_(22227596_?)dup
NC_000011.10:g.(?_22218236)_(22221220_?)del
NC_000011.10:g.(?_22218246)_(22221210_?)del
NC_000011.10:g.(?_22239559)_(22279775_?)dup
NC_000011.10:g.(?_22272764)_(22276219_?)del
NC_000011.10:g.(?_22272774)_(22276209_?)del
NC_000011.9:g.(?_22271763)_(22301331_?)dup
NC_000011.9:g.(?_22297640)_(22304913_?)dup
NM_001142649.2(ANO5):c.2595_2596GA[2] (p.Glu867fs) rs1554935928
NM_001142649.2(ANO5):c.615_617CTT[1] (p.Phe207del) rs774304728
NM_001142649.2(ANO5):c.986dup (p.Leu329fs) rs398124626
NM_213599.2(ANO5):c.1031C>G (p.Pro344Arg) rs541372136
NM_213599.2(ANO5):c.1042G>A (p.Gly348Ser) rs139344099
NM_213599.2(ANO5):c.1088G>A (p.Trp363Ter) rs1554929301
NM_213599.2(ANO5):c.108G>T (p.Glu36Asp) rs1417289245
NM_213599.2(ANO5):c.1095A>G (p.Leu365=) rs35804601
NM_213599.2(ANO5):c.1119+1G>T
NM_213599.2(ANO5):c.1120-1G>A rs561719071
NM_213599.2(ANO5):c.1165T>C (p.Phe389Leu) rs886043042
NM_213599.2(ANO5):c.1203G>T (p.Trp401Cys) rs886042339
NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter) rs368970223
NM_213599.2(ANO5):c.1312A>C (p.Lys438Gln) rs761417429
NM_213599.2(ANO5):c.1332G>A (p.Lys444=) rs550454492
NM_213599.2(ANO5):c.1361C>T (p.Thr454Met) rs148698633
NM_213599.2(ANO5):c.1363C>T (p.Arg455Cys) rs200633920
NM_213599.2(ANO5):c.1364G>A (p.Arg455His) rs772899863
NM_213599.2(ANO5):c.136A>G (p.Met46Val) rs537770163
NM_213599.2(ANO5):c.138+10G>A rs78987921
NM_213599.2(ANO5):c.138+6C>G rs1342335241
NM_213599.2(ANO5):c.1387G>A (p.Gly463Arg) rs776193177
NM_213599.2(ANO5):c.139-1del rs868484837
NM_213599.2(ANO5):c.1391C>A (p.Ala464Asp) rs529961953
NM_213599.2(ANO5):c.1430T>C (p.Met477Thr) rs149017832
NM_213599.2(ANO5):c.1463T>C (p.Phe488Ser) rs1590300142
NM_213599.2(ANO5):c.148C>T (p.Arg50Ter) rs1168346560
NM_213599.2(ANO5):c.149G>A (p.Arg50Gln) rs370084681
NM_213599.2(ANO5):c.1516A>G (p.Ser506Gly) rs141799673
NM_213599.2(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.2(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.2(ANO5):c.1545A>G (p.Ser515=) rs35843353
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213599.2(ANO5):c.1563G>T (p.Leu521Phe) rs190937193
NM_213599.2(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.2(ANO5):c.1630+5del rs1064795273
NM_213599.2(ANO5):c.1640G>A (p.Arg547Gln) rs139618850
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
NM_213599.2(ANO5):c.1665T>A (p.Ser555Arg) rs1554931739
NM_213599.2(ANO5):c.169C>T (p.Arg57Trp) rs1323349209
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213599.2(ANO5):c.1733T>C (p.Phe578Ser) rs137854526
NM_213599.2(ANO5):c.1736A>T (p.Lys579Ile) rs1554931810
NM_213599.2(ANO5):c.1737dup (p.Gly580fs) rs759064817
NM_213599.2(ANO5):c.173G>A (p.Arg58Gln) rs749698519
NM_213599.2(ANO5):c.173G>T (p.Arg58Leu) rs749698519
NM_213599.2(ANO5):c.1760G>A (p.Gly587Glu) rs369600326
NM_213599.2(ANO5):c.1801-9T>C rs202034123
NM_213599.2(ANO5):c.1823T>C (p.Ile608Thr) rs763783201
NM_213599.2(ANO5):c.185A>G (p.Gln62Arg) rs754497228
NM_213599.2(ANO5):c.1880T>C (p.Ile627Thr) rs766811349
NM_213599.2(ANO5):c.1894T>G (p.Tyr632Asp) rs748238790
NM_213599.2(ANO5):c.1898+1G>A rs142027093
NM_213599.2(ANO5):c.18C>T (p.Leu6=) rs1257688225
NM_213599.2(ANO5):c.1904C>T (p.Ala635Val) rs540339861
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.1924C>G (p.Arg642Gly) rs146341538
NM_213599.2(ANO5):c.1930G>C (p.Ala644Pro) rs1302354806
NM_213599.2(ANO5):c.1955A>G (p.Tyr652Cys) rs563666662
NM_213599.2(ANO5):c.1957A>G (p.Ser653Gly) rs370610082
NM_213599.2(ANO5):c.1962A>G (p.Arg654=) rs1057521970
NM_213599.2(ANO5):c.1963T>C (p.Trp655Arg) rs912174567
NM_213599.2(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.2(ANO5):c.2012A>G (p.Tyr671Cys) rs764261431
NM_213599.2(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527
NM_213599.2(ANO5):c.2030-3_2030-2dup rs768691315
NM_213599.2(ANO5):c.2051C>T (p.Thr684Ile) rs1554934236
NM_213599.2(ANO5):c.2056T>G (p.Phe686Val) rs1554934237
NM_213599.2(ANO5):c.2096T>C (p.Ile699Thr) rs772625102
NM_213599.2(ANO5):c.2117G>A (p.Arg706Gln) rs926233739
NM_213599.2(ANO5):c.2141C>G (p.Thr714Ser) rs200631556
NM_213599.2(ANO5):c.2185G>A (p.Val729Ile) rs778772732
NM_213599.2(ANO5):c.2203T>G (p.Tyr735Asp) rs1564951438
NM_213599.2(ANO5):c.220C>T (p.Arg74Ter) rs749645231
NM_213599.2(ANO5):c.2235+4A>C rs372056234
NM_213599.2(ANO5):c.2256G>A (p.Thr752=) rs144048656
NM_213599.2(ANO5):c.2259A>G (p.Ser753=) rs61746201
NM_213599.2(ANO5):c.2273G>A (p.Arg758His) rs369058382
NM_213599.2(ANO5):c.2275C>T (p.Leu759=) rs142231956
NM_213599.2(ANO5):c.2317A>G (p.Met773Val) rs751028884
NM_213599.2(ANO5):c.2354T>G (p.Leu785Arg) rs146136277
NM_213599.2(ANO5):c.2387C>T (p.Ser796Leu) rs61910685
NM_213599.2(ANO5):c.2396G>A (p.Arg799Gln) rs747460085
NM_213599.2(ANO5):c.2414+3G>A rs199548403
NM_213599.2(ANO5):c.2417A>G (p.Tyr806Cys) rs755040619
NM_213599.2(ANO5):c.2425T>G (p.Tyr809Asp) rs781142402
NM_213599.2(ANO5):c.2438C>A (p.Pro813His) rs547523498
NM_213599.2(ANO5):c.2470del (p.Gln824fs) rs770694933
NM_213599.2(ANO5):c.2489C>T (p.Ala830Val) rs766853141
NM_213599.2(ANO5):c.2498T>A (p.Met833Lys) rs142073798
NM_213599.2(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.2(ANO5):c.2520+6C>T rs886042378
NM_213599.2(ANO5):c.2521-1del rs752982710
NM_213599.2(ANO5):c.2521-7C>T rs201438159
NM_213599.2(ANO5):c.2521C>G (p.His841Asp) rs781027702
NM_213599.2(ANO5):c.2561T>A (p.Ile854Lys) rs1311724644
NM_213599.2(ANO5):c.2578G>C (p.Asp860His) rs145362994
NM_213599.2(ANO5):c.2593A>C (p.Ile865Leu) rs772869621
NM_213599.2(ANO5):c.259G>A (p.Val87Ile) rs34994927
NM_213599.2(ANO5):c.2611A>C (p.Met871Leu) rs189233047
NM_213599.2(ANO5):c.2636T>C (p.Phe879Ser) rs1459697236
NM_213599.2(ANO5):c.263A>G (p.Asp88Gly) rs1206860357
NM_213599.2(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.2(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) rs148293985
NM_213599.2(ANO5):c.2717C>T (p.Ala906Val) rs764351643
NM_213599.2(ANO5):c.279C>T (p.Asp93=) rs148516756
NM_213599.2(ANO5):c.294G>A (p.Ala98=) rs142858990
NM_213599.2(ANO5):c.295-1G>A rs780109230
NM_213599.2(ANO5):c.296A>G (p.Glu99Gly) rs571318959
NM_213599.2(ANO5):c.299del (p.Arg100fs) rs1064793358
NM_213599.2(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.2(ANO5):c.31G>A (p.Ala11Thr) rs1373002417
NM_213599.2(ANO5):c.369G>A (p.Ser123=) rs199888040
NM_213599.2(ANO5):c.39A>G (p.Glu13=) rs774709754
NM_213599.2(ANO5):c.41-1G>A rs398124625
NM_213599.2(ANO5):c.412G>T (p.Glu138Ter) rs1554924356
NM_213599.2(ANO5):c.416T>C (p.Val139Ala) rs758319655
NM_213599.2(ANO5):c.424A>T (p.Thr142Ser) rs757367942
NM_213599.2(ANO5):c.436G>A (p.Val146Ile) rs1396031481
NM_213599.2(ANO5):c.44A>G (p.Glu15Gly) rs886042647
NM_213599.2(ANO5):c.475C>A (p.Pro159Thr) rs866752563
NM_213599.2(ANO5):c.478C>T (p.Arg160Cys) rs200531045
NM_213599.2(ANO5):c.479G>A (p.Arg160His) rs150652958
NM_213599.2(ANO5):c.525C>G (p.Leu175=) rs143331003
NM_213599.2(ANO5):c.53A>G (p.Asn18Ser) rs1010958758
NM_213599.2(ANO5):c.553G>C (p.Glu185Gln) rs140381407
NM_213599.2(ANO5):c.583C>T (p.Arg195Trp) rs149040903
NM_213599.2(ANO5):c.598C>G (p.Leu200Val) rs1323200040
NM_213599.2(ANO5):c.603C>A (p.Ile201=) rs182532539
NM_213599.2(ANO5):c.604G>A (p.Glu202Lys) rs115750596
NM_213599.2(ANO5):c.616A>G (p.Thr206Ala) rs78266558
NM_213599.2(ANO5):c.650T>C (p.Val217Ala) rs749876289
NM_213599.2(ANO5):c.653A>G (p.Tyr218Cys) rs548449293
NM_213599.2(ANO5):c.680G>C (p.Gly227Ala) rs140903276
NM_213599.2(ANO5):c.689A>G (p.Asp230Gly) rs139259793
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213599.2(ANO5):c.720G>T (p.Leu240=) rs147121216
NM_213599.2(ANO5):c.736T>C (p.Tyr246His) rs1219063834
NM_213599.2(ANO5):c.746C>T (p.Ala249Val) rs1278466363
NM_213599.2(ANO5):c.749A>G (p.Tyr250Cys) rs781734224
NM_213599.2(ANO5):c.762+1G>A rs372221490
NM_213599.2(ANO5):c.775A>T (p.Lys259Ter) rs1590266227
NM_213599.2(ANO5):c.788C>T (p.Pro263Leu) rs754281591
NM_213599.2(ANO5):c.794A>G (p.Asn265Ser) rs377553546
NM_213599.2(ANO5):c.797C>T (p.Pro266Leu) rs745908606
NM_213599.2(ANO5):c.803A>G (p.Asn268Ser) rs769560800
NM_213599.2(ANO5):c.817C>T (p.Leu273Phe) rs772929002
NM_213599.2(ANO5):c.842C>A (p.Ser281Tyr) rs1590266478
NM_213599.2(ANO5):c.873_876del (p.Ile292fs) rs1458677325
NM_213599.2(ANO5):c.879-7_879-6del rs143977836
NM_213599.2(ANO5):c.87G>A (p.Glu29=) rs1554919178
NM_213599.2(ANO5):c.88C>G (p.Gln30Glu) rs747575706
NM_213599.2(ANO5):c.994A>G (p.Met332Val) rs200553437
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595
NM_213599.3(ANO5):c.103A>G (p.Arg35Gly)
NM_213599.3(ANO5):c.1065C>T (p.Leu355=) rs1469195279
NM_213599.3(ANO5):c.1120-9T>G
NM_213599.3(ANO5):c.1254A>G (p.Glu418=) rs368092838
NM_213599.3(ANO5):c.1359C>T (p.Tyr453=) rs754889480
NM_213599.3(ANO5):c.1388G>A (p.Gly463Glu)
NM_213599.3(ANO5):c.1407+6C>A
NM_213599.3(ANO5):c.1409T>A (p.Met470Lys)
NM_213599.3(ANO5):c.1417G>A (p.Val473Ile)
NM_213599.3(ANO5):c.142G>A (p.Ala48Thr)
NM_213599.3(ANO5):c.1468A>T (p.Thr490Ser)
NM_213599.3(ANO5):c.1544C>A (p.Ser515Ter)
NM_213599.3(ANO5):c.1567T>G (p.Phe523Val)
NM_213599.3(ANO5):c.1594T>C (p.Phe532Leu)
NM_213599.3(ANO5):c.1629G>T (p.Met543Ile)
NM_213599.3(ANO5):c.1746C>A (p.Phe582Leu)
NM_213599.3(ANO5):c.1747G>A (p.Val583Ile)
NM_213599.3(ANO5):c.1936A>G (p.Thr646Ala)
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529
NM_213599.3(ANO5):c.2347G>A (p.Val783Ile)
NM_213599.3(ANO5):c.2554T>C (p.Trp852Arg)
NM_213599.3(ANO5):c.2600G>T (p.Arg867Ile)
NM_213599.3(ANO5):c.2609T>G (p.Leu870Ter)
NM_213599.3(ANO5):c.2646C>A (p.Asn882Lys)
NM_213599.3(ANO5):c.2688C>T (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.2689A>C (p.Lys897Gln)
NM_213599.3(ANO5):c.280G>A (p.Ala94Thr)
NM_213599.3(ANO5):c.294+9A>T rs369462468
NM_213599.3(ANO5):c.345G>A (p.Leu115=)
NM_213599.3(ANO5):c.364-1G>A
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu)
NM_213599.3(ANO5):c.517G>C (p.Val173Leu)
NM_213599.3(ANO5):c.534T>G (p.Ser178Arg)
NM_213599.3(ANO5):c.535G>A (p.Val179Met)
NM_213599.3(ANO5):c.545C>T (p.Pro182Leu)
NM_213599.3(ANO5):c.570A>G (p.Gln190=)
NM_213599.3(ANO5):c.589G>A (p.Glu197Lys)
NM_213599.3(ANO5):c.671G>C (p.Cys224Ser)
NM_213599.3(ANO5):c.741A>G (p.Ser247=) rs765749098
NM_213599.3(ANO5):c.763G>A (p.Gly255Ser)
NM_213599.3(ANO5):c.794A>T (p.Asn265Ile)
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser) rs138144479
NM_213599.3(ANO5):c.820C>T (p.His274Tyr)
NM_213599.3(ANO5):c.833C>T (p.Ala278Val)
NM_213599.3(ANO5):c.836G>A (p.Arg279Gln)
NM_213599.3(ANO5):c.877A>C (p.Lys293Gln)
NM_213599.3(ANO5):c.932C>A (p.Thr311Lys)
NM_213599.3(ANO5):c.934G>A (p.Glu312Lys)

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