ClinVar Miner

List of variants in gene ANO5 reported as likely pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 6
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HGVS dbSNP
NM_213599.2(ANO5):c.1013+1G>T rs1335126943
NM_213599.2(ANO5):c.242A>G (p.Asp81Gly) rs199501657
NM_213599.2(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.2(ANO5):c.2521-1del rs752982710
NM_213599.2(ANO5):c.2521C>G (p.His841Asp) rs781027702
NM_213599.2(ANO5):c.2599del (p.Arg867fs) rs886042556

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