ClinVar Miner

List of variants in gene ANO5 reported as pathogenic for not provided

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Total variants: 44
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HGVS dbSNP
NM_213599.2(ANO5):c.104_105GA[2] (p.Glu36fs) rs886044020
NM_213599.2(ANO5):c.1120-1G>A rs561719071
NM_213599.2(ANO5):c.1207C>T (p.Gln403Ter) rs1554930267
NM_213599.2(ANO5):c.1210C>T (p.Arg404Ter) rs566415362
NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter) rs368970223
NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly) rs137854524
NM_213599.2(ANO5):c.139-1delG rs868484837
NM_213599.2(ANO5):c.1391C>A (p.Ala464Asp) rs529961953
NM_213599.2(ANO5):c.1406G>A (p.Trp469Ter) rs765427574
NM_213599.2(ANO5):c.1516del (p.Ser506fs) rs1302414683
NM_213599.2(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.2(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.2(ANO5):c.1631-12_1631-2delTTAACTTAACA rs886043327
NM_213599.2(ANO5):c.1639C>T (p.Arg547Ter) rs747719953
NM_213599.2(ANO5):c.1709C>G (p.Ser570Ter) rs765262083
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.1767C>A (p.Tyr589Ter) rs188150039
NM_213599.2(ANO5):c.1898+1G>A rs142027093
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.1960C>T (p.Arg654Ter) rs1488095558
NM_213599.2(ANO5):c.196_200CAAAG[1] (p.Ser67fs) rs794727745
NM_213599.2(ANO5):c.1992dup (p.Gly665fs) rs1554933716
NM_213599.2(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.2(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527
NM_213599.2(ANO5):c.2172_2178del (p.Ala724_His725insTer) rs794727231
NM_213599.2(ANO5):c.2176dup (p.Ser726fs) rs797044667
NM_213599.2(ANO5):c.2235+1G>A rs886042442
NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys) rs137854529
NM_213599.2(ANO5):c.2345C>G (p.Ser782Ter) rs753138577
NM_213599.2(ANO5):c.2446G>T (p.Glu816Ter) rs145127621
NM_213599.2(ANO5):c.2470del (p.Gln824fs) rs770694933
NM_213599.2(ANO5):c.2498T>A (p.Met833Lys) rs142073798
NM_213599.2(ANO5):c.2521C>G (p.His841Asp) rs781027702
NM_213599.2(ANO5):c.299del (p.Arg100fs) rs1064793358
NM_213599.2(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.2(ANO5):c.306del (p.Glu103fs) rs1564922516
NM_213599.2(ANO5):c.41-1G>A rs398124625
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213599.2(ANO5):c.69C>A (p.Tyr23Ter)
NM_213599.2(ANO5):c.762+1G>A rs372221490
NM_213599.2(ANO5):c.835C>T (p.Arg279Ter) rs1564930625
NM_213599.2(ANO5):c.889G>T (p.Gly297Ter) rs886043074
NM_213599.2(ANO5):c.989dup (p.Leu330fs) rs398124626

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