ClinVar Miner

List of variants in gene ANO5 reported by GeneDx

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Gene type:
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Total variants: 108
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HGVS dbSNP
GRCh38/hg38 11p14.3(chr11:22162150-22321563)x3
GRCh38/hg38 11p15.1-14.3(chr11:21948209-22239692)x3
NC_000011.10:g.22203789_22203792del
NC_000011.10:g.22218076del
NM_213599.2(ANO5):c.-136G>C rs12792259
NM_213599.2(ANO5):c.-217G>T rs73479393
NM_213599.2(ANO5):c.1029C>T (p.Asp343=) rs78899595
NM_213599.2(ANO5):c.1036A>C (p.Ile346Leu) rs146233625
NM_213599.2(ANO5):c.1081G>C (p.Asp361His) rs1554929295
NM_213599.2(ANO5):c.1088G>A (p.Trp363Ter) rs1554929301
NM_213599.2(ANO5):c.1095A>G (p.Leu365=) rs35804601
NM_213599.2(ANO5):c.1120-24A>T rs11026476
NM_213599.2(ANO5):c.11C>A (p.Pro4Gln) rs376116831
NM_213599.2(ANO5):c.1210C>T (p.Arg404Ter) rs566415362
NM_213599.2(ANO5):c.1222C>T (p.Leu408=) rs997655691
NM_213599.2(ANO5):c.1332+242G>A
NM_213599.2(ANO5):c.1333-238T>C
NM_213599.2(ANO5):c.138+14A>G
NM_213599.2(ANO5):c.138+166G>A
NM_213599.2(ANO5):c.138+169G>A rs4922980
NM_213599.2(ANO5):c.138+206T>C rs4922981
NM_213599.2(ANO5):c.139-1del rs868484837
NM_213599.2(ANO5):c.139-226T>G
NM_213599.2(ANO5):c.1391C>A (p.Ala464Asp) rs529961953
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.1630+181A>G rs7108392
NM_213599.2(ANO5):c.1630+228T>G
NM_213599.2(ANO5):c.1630+5del rs1064795273
NM_213599.2(ANO5):c.1631-12_1631-2del rs886043327
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
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.172C>T (p.Arg58Trp) rs201725369
NM_213599.2(ANO5):c.180+223G>A rs4620717
NM_213599.2(ANO5):c.180+279T>C
NM_213599.2(ANO5):c.181-16T>C rs762760550
NM_213599.2(ANO5):c.181-18C>T rs1350082012
NM_213599.2(ANO5):c.181-19T>C
NM_213599.2(ANO5):c.1898+1G>A rs142027093
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.1955A>G (p.Tyr652Cys) rs563666662
NM_213599.2(ANO5):c.1962A>G (p.Arg654=) rs1057521970
NM_213599.2(ANO5):c.1981C>T (p.Leu661Phe) rs944857212
NM_213599.2(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.2(ANO5):c.2029+66_2029+76del
NM_213599.2(ANO5):c.2139C>T (p.Thr713=) rs767479331
NM_213599.2(ANO5):c.2141C>G (p.Thr714Ser) rs200631556
NM_213599.2(ANO5):c.2175T>C (p.His725=) rs1057522538
NM_213599.2(ANO5):c.2238C>T (p.Ala746=)
NM_213599.2(ANO5):c.2259A>G (p.Ser753=) rs61746201
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.2415-148A>G
NM_213599.2(ANO5):c.2415-7T>C rs1554935084
NM_213599.2(ANO5):c.242A>G (p.Asp81Gly) rs199501657
NM_213599.2(ANO5):c.2520+206T>C
NM_213599.2(ANO5):c.2520+25G>C rs11026488
NM_213599.2(ANO5):c.2521-13A>G rs76850415
NM_213599.2(ANO5):c.2521-29G>A rs12282177
NM_213599.2(ANO5):c.2521-7C>T rs201438159
NM_213599.2(ANO5):c.2521C>G (p.His841Asp) rs781027702
NM_213599.2(ANO5):c.259G>A (p.Val87Ile) rs34994927
NM_213599.2(ANO5):c.2623A>C (p.Ile875Leu) rs1131691364
NM_213599.2(ANO5):c.2639A>G (p.Glu880Gly) rs1554935957
NM_213599.2(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.2(ANO5):c.267T>C (p.Asp89=) rs4312063
NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) rs148293985
NM_213599.2(ANO5):c.276A>G (p.Lys92=) rs201678262
NM_213599.2(ANO5):c.294G>A (p.Ala98=) rs142858990
NM_213599.2(ANO5):c.295-16T>A rs746448319
NM_213599.2(ANO5):c.295-8dup rs778435515
NM_213599.2(ANO5):c.299del (p.Arg100fs) rs1064793358
NM_213599.2(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.2(ANO5):c.364-283T>C
NM_213599.2(ANO5):c.364-300T>C
NM_213599.2(ANO5):c.364-5T>C
NM_213599.2(ANO5):c.385T>C (p.Tyr129His) rs370952911
NM_213599.2(ANO5):c.40+64G>T
NM_213599.2(ANO5):c.41-1G>A rs398124625
NM_213599.2(ANO5):c.584G>A (p.Arg195Gln) rs143078257
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.637A>G (p.Arg213Gly) rs1490746741
NM_213599.2(ANO5):c.648+257G>A
NM_213599.2(ANO5):c.649-114T>A
NM_213599.2(ANO5):c.649-166A>G rs4534588
NM_213599.2(ANO5):c.649-249C>G
NM_213599.2(ANO5):c.650T>C (p.Val217Ala) rs749876289
NM_213599.2(ANO5):c.680G>C (p.Gly227Ala) rs140903276
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.762+321T>C
NM_213599.2(ANO5):c.762+87G>A rs11026471
NM_213599.2(ANO5):c.800C>G (p.Thr267Ser) rs138144479
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.859C>G (p.Gln287Glu) rs1554927050
NM_213599.2(ANO5):c.878+17G>A rs749031281
NM_213599.2(ANO5):c.879-18T>C rs7104758
NM_213599.2(ANO5):c.879-263G>A
NM_213599.2(ANO5):c.879-76T>A rs7104736
NM_213599.2(ANO5):c.879-7_879-6del rs143977836
NM_213599.2(ANO5):c.88-281C>A
NM_213599.2(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NM_213599.2(ANO5):c.989dup (p.Leu330fs) rs398124626

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