ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
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.2272C>T (p.Arg758Cys) rs137854529 0.00049
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.2498T>A (p.Met833Lys) rs142073798 0.00014
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.1640G>A (p.Arg547Gln) rs139618850 0.00009
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln) rs749698519 0.00003
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe) rs772929002 0.00003
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg) rs912174567 0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter) rs753138577 0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs) rs770694933 0.00001
NM_213599.3(ANO5):c.2521-1del rs752982710 0.00001
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu) rs575008764 0.00001
NM_213599.3(ANO5):c.637A>G (p.Arg213Gly) rs1490746741 0.00001
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter) rs762035813 0.00001
NM_213599.3(ANO5):c.1013+1G>T rs1335126943
NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter) rs1554929301
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.3(ANO5):c.1899-2A>C rs1379042100
NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys) rs563666662
NM_213599.3(ANO5):c.2029+2T>C rs2133778981
NM_213599.3(ANO5):c.206_207del (p.Asp69fs) rs1254796261
NM_213599.3(ANO5):c.2498T>G (p.Met833Arg)
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.3(ANO5):c.2599del (p.Arg867fs) rs886042556
NM_213599.3(ANO5):c.295-2A>G
NM_213599.3(ANO5):c.40+2T>C
NM_213599.3(ANO5):c.695del (p.Lys232fs) rs1187037268
NM_213599.3(ANO5):c.774G>A (p.Trp258Ter)
NM_213599.3(ANO5):c.813C>G (p.Tyr271Ter) rs1380525804
NM_213599.3(ANO5):c.859C>G (p.Gln287Glu) rs1554927050

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