ClinVar Miner

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

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Total variants: 9
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NM_213599.2(ANO5):c.1031C>G (p.Pro344Arg) rs541372136
NM_213599.2(ANO5):c.18C>T (p.Leu6=) rs1257688225
NM_213599.2(ANO5):c.2236-6C>T rs755410266
NM_213599.2(ANO5):c.2275C>T (p.Leu759=) rs142231956
NM_213599.2(ANO5):c.259G>A (p.Val87Ile) rs34994927
NM_213599.2(ANO5):c.294G>A (p.Ala98=) rs142858990
NM_213599.2(ANO5):c.369G>A (p.Ser123=) rs199888040
NM_213599.2(ANO5):c.680G>C (p.Gly227Ala) rs140903276
NM_213599.2(ANO5):c.720G>T (p.Leu240=) rs147121216

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