ClinVar Miner

List of variants in gene ANO5 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 177
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HGVS dbSNP
NM_213599.2(ANO5):c.-15_2dup rs1554916417
NM_213599.2(ANO5):c.-1G>A rs138260594
NM_213599.2(ANO5):c.1014-6T>C
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.1063C>T (p.Leu355Phe) rs886042583
NM_213599.2(ANO5):c.1103C>T (p.Thr368Met) rs760792371
NM_213599.2(ANO5):c.1106G>A (p.Cys369Tyr) rs886044154
NM_213599.2(ANO5):c.1116A>G (p.Ser372=) rs151022897
NM_213599.2(ANO5):c.1120-10A>G rs886043275
NM_213599.2(ANO5):c.1142A>G (p.Glu381Gly) rs886042416
NM_213599.2(ANO5):c.1165T>C (p.Phe389Leu) rs886043042
NM_213599.2(ANO5):c.11C>G (p.Pro4Arg) rs376116831
NM_213599.2(ANO5):c.1203G>T (p.Trp401Cys) rs886042339
NM_213599.2(ANO5):c.1211G>A (p.Arg404Gln) rs375834855
NM_213599.2(ANO5):c.1222C>T (p.Leu408=) rs997655691
NM_213599.2(ANO5):c.1243G>A (p.Val415Met) rs886042432
NM_213599.2(ANO5):c.1265A>C (p.Gln422Pro) rs1554930319
NM_213599.2(ANO5):c.130G>A (p.Glu44Lys) rs1554920664
NM_213599.2(ANO5):c.1332+8A>G rs368857740
NM_213599.2(ANO5):c.1333-10A>C rs886042217
NM_213599.2(ANO5):c.1333-4delA rs1554930702
NM_213599.2(ANO5):c.1333-9A>G rs538243103
NM_213599.2(ANO5):c.1361C>A (p.Thr454Lys)
NM_213599.2(ANO5):c.1364G>A (p.Arg455His) rs772899863
NM_213599.2(ANO5):c.1367T>A (p.Ile456Asn) rs748907726
NM_213599.2(ANO5):c.138+6C>G
NM_213599.2(ANO5):c.1387G>A (p.Gly463Arg) rs776193177
NM_213599.2(ANO5):c.1391C>A (p.Ala464Asp) rs529961953
NM_213599.2(ANO5):c.139C>T (p.Pro47Ser) rs147323556
NM_213599.2(ANO5):c.1408-8T>C rs1554931111
NM_213599.2(ANO5):c.1429A>G (p.Met477Val) rs886043190
NM_213599.2(ANO5):c.1430T>C (p.Met477Thr) rs149017832
NM_213599.2(ANO5):c.1434A>C (p.Val478=) rs886044360
NM_213599.2(ANO5):c.1438_1439insGTG (p.Ala479_Val480insGly) rs886042702
NM_213599.2(ANO5):c.1450C>T (p.Arg484Cys) rs777607869
NM_213599.2(ANO5):c.1452C>G (p.Arg484=)
NM_213599.2(ANO5):c.1468A>G (p.Thr490Ala) rs375611559
NM_213599.2(ANO5):c.1483A>G (p.Met495Val)
NM_213599.2(ANO5):c.1495G>A (p.Ala499Thr) rs746548151
NM_213599.2(ANO5):c.1497A>G (p.Ala499=) rs886042923
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.1538C>T (p.Thr513Ile) rs281865467
NM_213599.2(ANO5):c.1548C>T (p.Leu516=) rs886042624
NM_213599.2(ANO5):c.1549A>G (p.Thr517Ala)
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213599.2(ANO5):c.1563G>T (p.Leu521Phe) rs190937193
NM_213599.2(ANO5):c.161T>C (p.Phe54Ser) rs886043577
NM_213599.2(ANO5):c.1631-3C>G rs886044259
NM_213599.2(ANO5):c.1631-7_1631-3delTTAAC rs1554931720
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.1677A>C (p.Lys559Asn) rs1554931746
NM_213599.2(ANO5):c.1685T>C (p.Leu562Pro) rs772361544
NM_213599.2(ANO5):c.1689T>C (p.Phe563=) rs527322470
NM_213599.2(ANO5):c.1691A>T (p.Gln564Leu) rs1410381664
NM_213599.2(ANO5):c.1692G>C (p.Gln564His) rs886044101
NM_213599.2(ANO5):c.169C>T (p.Arg57Trp) rs1323349209
NM_213599.2(ANO5):c.170G>A (p.Arg57Gln) rs781702630
NM_213599.2(ANO5):c.1723G>A (p.Val575Ile) rs751404759
NM_213599.2(ANO5):c.173G>A (p.Arg58Gln) rs749698519
NM_213599.2(ANO5):c.1746C>T (p.Phe582=)
NM_213599.2(ANO5):c.1760G>A (p.Gly587Glu) rs369600326
NM_213599.2(ANO5):c.180+7C>T rs886044459
NM_213599.2(ANO5):c.1800+5G>A rs794727179
NM_213599.2(ANO5):c.1801-9T>C rs202034123
NM_213599.2(ANO5):c.1803T>C (p.Cys601=) rs771155107
NM_213599.2(ANO5):c.181-4G>A
NM_213599.2(ANO5):c.1827A>G (p.Glu609=)
NM_213599.2(ANO5):c.185A>G (p.Gln62Arg) rs754497228
NM_213599.2(ANO5):c.1860G>A (p.Gly620=) rs886042751
NM_213599.2(ANO5):c.1880T>C (p.Ile627Thr) rs766811349
NM_213599.2(ANO5):c.1888G>A (p.Ala630Thr) rs751996270
NM_213599.2(ANO5):c.18C>T (p.Leu6=) rs1257688225
NM_213599.2(ANO5):c.1915T>C (p.Trp639Arg)
NM_213599.2(ANO5):c.1915_1917delTGG (p.Trp639del) rs886043515
NM_213599.2(ANO5):c.1924C>G (p.Arg642Gly) rs146341538
NM_213599.2(ANO5):c.1934G>A (p.Arg645Gln) rs762414395
NM_213599.2(ANO5):c.1957A>G (p.Ser653Gly) rs370610082
NM_213599.2(ANO5):c.1966G>C (p.Glu656Gln) rs886043829
NM_213599.2(ANO5):c.19C>T (p.Leu7=) rs886044133
NM_213599.2(ANO5):c.2012A>G (p.Tyr671Cys) rs764261431
NM_213599.2(ANO5):c.2030-3C>A rs752534913
NM_213599.2(ANO5):c.2030-3C>G rs752534913
NM_213599.2(ANO5):c.2039T>C (p.Phe680Ser) rs777640863
NM_213599.2(ANO5):c.2080C>T (p.Pro694Ser) rs886042582
NM_213599.2(ANO5):c.209C>A (p.Ser70Tyr)
NM_213599.2(ANO5):c.2117G>A (p.Arg706Gln) rs926233739
NM_213599.2(ANO5):c.2125G>T (p.Ala709Ser) rs868221979
NM_213599.2(ANO5):c.2141C>G (p.Thr714Ser) rs200631556
NM_213599.2(ANO5):c.2144A>G (p.Gln715Arg) rs886043450
NM_213599.2(ANO5):c.217T>C (p.Phe73Leu) rs778443860
NM_213599.2(ANO5):c.2185G>A (p.Val729Ile) rs778772732
NM_213599.2(ANO5):c.2193A>C (p.Gln731His) rs745356431
NM_213599.2(ANO5):c.2200C>A (p.Leu734Ile) rs886042760
NM_213599.2(ANO5):c.2203T>G (p.Tyr735Asp)
NM_213599.2(ANO5):c.2235+4A>C rs372056234
NM_213599.2(ANO5):c.2236-6C>A rs755410266
NM_213599.2(ANO5):c.2236-9dup rs777519959
NM_213599.2(ANO5):c.2237C>A (p.Ala746Asp) rs886042907
NM_213599.2(ANO5):c.223G>C (p.Asp75His) rs886044184
NM_213599.2(ANO5):c.2273G>A (p.Arg758His)
NM_213599.2(ANO5):c.2281T>C (p.Tyr761His)
NM_213599.2(ANO5):c.228G>C (p.Gly76=) rs746137951
NM_213599.2(ANO5):c.2317A>G (p.Met773Val) rs751028884
NM_213599.2(ANO5):c.2321C>A (p.Thr774Lys)
NM_213599.2(ANO5):c.233G>C (p.Arg78Thr) rs886042750
NM_213599.2(ANO5):c.2348T>C (p.Val783Ala) rs778067880
NM_213599.2(ANO5):c.2383C>A (p.Pro795Thr) rs545101053
NM_213599.2(ANO5):c.2414+3G>A rs199548403
NM_213599.2(ANO5):c.2417A>G (p.Tyr806Cys) rs755040619
NM_213599.2(ANO5):c.2434C>A (p.Pro812Thr) rs1453462378
NM_213599.2(ANO5):c.2446G>A (p.Glu816Lys) rs145127621
NM_213599.2(ANO5):c.2458T>C (p.Phe820Leu)
NM_213599.2(ANO5):c.2481T>C (p.His827=)
NM_213599.2(ANO5):c.2516T>C (p.Met839Thr) rs150442899
NM_213599.2(ANO5):c.2520+5G>A
NM_213599.2(ANO5):c.2520+6C>T rs886042378
NM_213599.2(ANO5):c.2610A>G (p.Leu870=) rs369103376
NM_213599.2(ANO5):c.2611A>C (p.Met871Leu) rs189233047
NM_213599.2(ANO5):c.2623A>C (p.Ile875Leu) rs1131691364
NM_213599.2(ANO5):c.2646C>T (p.Asn882=) rs34969327
NM_213599.2(ANO5):c.265G>T (p.Asp89Tyr)
NM_213599.2(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.2(ANO5):c.2696T>C (p.Val899Ala) rs886043973
NM_213599.2(ANO5):c.2711A>T (p.Asn904Ile) rs772279212
NM_213599.2(ANO5):c.2725G>A (p.Ala909Thr) rs754963729
NM_213599.2(ANO5):c.276A>G (p.Lys92=) rs201678262
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.295-7G>A rs753416246
NM_213599.2(ANO5):c.295-8dupT rs778435515
NM_213599.2(ANO5):c.303A>G (p.Arg101=) rs398124623
NM_213599.2(ANO5):c.331A>C (p.Thr111Pro) rs778956037
NM_213599.2(ANO5):c.363+4A>G rs137854522
NM_213599.2(ANO5):c.364-8T>A rs398124624
NM_213599.2(ANO5):c.369G>A (p.Ser123=) rs199888040
NM_213599.2(ANO5):c.385T>C (p.Tyr129His) rs370952911
NM_213599.2(ANO5):c.415G>T (p.Val139Leu) rs753871250
NM_213599.2(ANO5):c.416T>C (p.Val139Ala)
NM_213599.2(ANO5):c.424A>T (p.Thr142Ser) rs757367942
NM_213599.2(ANO5):c.44A>G (p.Glu15Gly) rs886042647
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.482C>T (p.Pro161Leu) rs886043523
NM_213599.2(ANO5):c.525C>G (p.Leu175=) rs143331003
NM_213599.2(ANO5):c.553G>C (p.Glu185Gln) rs140381407
NM_213599.2(ANO5):c.579A>T (p.Arg193Ser) rs886044162
NM_213599.2(ANO5):c.583C>T (p.Arg195Trp) rs149040903
NM_213599.2(ANO5):c.584G>A (p.Arg195Gln) rs143078257
NM_213599.2(ANO5):c.621_623delCTT (p.Phe208del) rs774304728
NM_213599.2(ANO5):c.647T>C (p.Ile216Thr) rs759481080
NM_213599.2(ANO5):c.648+5G>C rs752512585
NM_213599.2(ANO5):c.653A>G (p.Tyr218Cys) rs548449293
NM_213599.2(ANO5):c.656A>G (p.Tyr219Cys) rs753667370
NM_213599.2(ANO5):c.664T>C (p.Ser222Pro) rs886042372
NM_213599.2(ANO5):c.689A>G (p.Asp230Gly) rs139259793
NM_213599.2(ANO5):c.696G>A (p.Lys232=) rs773606619
NM_213599.2(ANO5):c.6C>T (p.Gly2=) rs781074405
NM_213599.2(ANO5):c.720G>T (p.Leu240=) rs147121216
NM_213599.2(ANO5):c.749A>G (p.Tyr250Cys) rs781734224
NM_213599.2(ANO5):c.766C>G (p.Gln256Glu) rs794727981
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.815C>G (p.Thr272Arg) rs1445016238
NM_213599.2(ANO5):c.817C>T (p.Leu273Phe) rs772929002
NM_213599.2(ANO5):c.845A>G (p.Tyr282Cys) rs561417561
NM_213599.2(ANO5):c.87+10A>C
NM_213599.2(ANO5):c.879-7_879-6delTT rs143977836
NM_213599.2(ANO5):c.879G>T (p.Lys293Asn) rs886043072
NM_213599.2(ANO5):c.880A>T (p.Asn294Tyr) rs886043073
NM_213599.2(ANO5):c.899T>A (p.Ile300Asn) rs886044659
NM_213599.2(ANO5):c.921T>C (p.Leu307=) rs755092814
NM_213599.2(ANO5):c.923G>A (p.Gly308Glu) rs886044187
NM_213599.2(ANO5):c.955G>A (p.Val319Ile) rs1313609330
NM_213599.2(ANO5):c.994A>G (p.Met332Val) rs200553437

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