ClinVar Miner

List of variants in gene ANO5 reported as likely pathogenic for Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L

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Total variants: 8
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HGVS dbSNP
NC_000011.9:g.(?_22239792)_(22242756_?)del
NC_000011.9:g.(?_22294310)_(22297765_?)del
NM_213599.2(ANO5):c.1120-1G>A rs561719071
NM_213599.2(ANO5):c.139-1delG rs868484837
NM_213599.2(ANO5):c.2521C>G (p.His841Asp) rs781027702
NM_213599.2(ANO5):c.295-1G>A
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213599.2(ANO5):c.762+1G>A rs372221490

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