ClinVar Miner

List of variants in gene ANO5 reported as pathogenic by Invitae

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Total variants: 20
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HGVS dbSNP
NM_213599.2(ANO5):c.1088G>A (p.Trp363Ter) rs1554929301
NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter) rs368970223
NM_213599.2(ANO5):c.148C>T (p.Arg50Ter) rs1168346560
NM_213599.2(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.2(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213599.2(ANO5):c.1737dup (p.Gly580fs) rs759064817
NM_213599.2(ANO5):c.1898+1G>A rs142027093
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.2(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527
NM_213599.2(ANO5):c.220C>T (p.Arg74Ter) rs749645231
NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys) rs137854529
NM_213599.2(ANO5):c.299del (p.Arg100fs) rs1064793358
NM_213599.2(ANO5):c.41-1G>A rs398124625
NM_213599.2(ANO5):c.412G>T (p.Glu138Ter) rs1554924356
NM_213599.2(ANO5):c.775A>T (p.Lys259Ter)
NM_213599.2(ANO5):c.813C>G (p.Tyr271Ter) rs1380525804
NM_213599.2(ANO5):c.873_876del (p.Ile292fs)
NM_213599.2(ANO5):c.989dup (p.Leu330fs) rs398124626

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