ClinVar Miner

List of variants in gene ANO5 reported as pathogenic by GeneDx

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Total variants: 12
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HGVS dbSNP
NM_213599.2(ANO5):c.1210C>T (p.Arg404Ter) rs566415362
NM_213599.2(ANO5):c.1391C>A (p.Ala464Asp) rs529961953
NM_213599.2(ANO5):c.1631-12_1631-2delTTAACTTAACA rs886043327
NM_213599.2(ANO5):c.1898+1G>A rs142027093
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.2004delG (p.Leu669Phefs) rs886043172
NM_213599.2(ANO5):c.2521C>G (p.His841Asp) rs781027702
NM_213599.2(ANO5):c.299delG (p.Arg100Lysfs) rs1064793358
NM_213599.2(ANO5):c.304_308delAAAGA (p.Lys102Valfs) rs776859202
NM_213599.2(ANO5):c.41-1G>A rs398124625
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213599.2(ANO5):c.989dupT (p.Leu330Phefs) rs398124626

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