ClinVar Miner

List of variants in gene ANO5 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00971
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00320
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
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.294G>A (p.Ala98=) rs142858990 0.00065
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.279C>T (p.Asp93=) rs148516756 0.00015
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_213599.3(ANO5):c.994A>G (p.Met332Val) rs200553437 0.00010
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly) rs141799673 0.00008
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) rs368970223 0.00004
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527 0.00003
NM_213599.3(ANO5):c.1722C>T (p.Tyr574=) rs781145099 0.00002
NM_213599.3(ANO5):c.2578G>C (p.Asp860His) rs145362994 0.00002
NM_213599.3(ANO5):c.1407+5G>A rs281865464 0.00001
NM_213599.3(ANO5):c.1983T>A (p.Leu661=) rs944652752 0.00001
NM_213599.3(ANO5):c.1993_1996dup (p.Pro666fs) rs780201679 0.00001
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln) rs926233739 0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter) rs753138577 0.00001
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu) rs575008764 0.00001
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter) rs762035813 0.00001
NM_213599.3(ANO5):c.1298T>C (p.Met433Thr) rs776413829
NM_213599.3(ANO5):c.1342C>T (p.Pro448Ser)
NM_213599.3(ANO5):c.1468A>G (p.Thr490Ala) rs375611559
NM_213599.3(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.3(ANO5):c.1597T>C (p.Tyr533His) rs1564942037
NM_213599.3(ANO5):c.1631-12_1631-2del rs886043327
NM_213599.3(ANO5):c.1848_1849insTTTTGGAAC (p.Ile616_Ile617insPheTrpAsn) rs1590306764
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.201_205del (p.Ser67fs) rs794727745
NM_213599.3(ANO5):c.206_207del (p.Asp69fs) rs1254796261
NM_213599.3(ANO5):c.2170G>C (p.Ala724Pro)
NM_213599.3(ANO5):c.2237C>A (p.Ala746Asp) rs886042907
NM_213599.3(ANO5):c.2339G>A (p.Ser780Asn) rs1554934744
NM_213599.3(ANO5):c.2415-2A>C rs1230152194
NM_213599.3(ANO5):c.2448G>A (p.Glu816=) rs760336798
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter) rs747146523
NM_213599.3(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.295-8dup rs778435515
NM_213599.3(ANO5):c.710T>C (p.Ile237Thr) rs1590260083
NM_213599.3(ANO5):c.822C>T (p.His274=) rs1590266413
NM_213599.3(ANO5):c.949G>A (p.Ala317Thr) rs1554929135
NM_213599.3(ANO5):c.970del (p.Cys324fs)

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