ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_213599.2(ANO5):c.1029C>T (p.Asp343=) rs78899595
NM_213599.2(ANO5):c.1095A>G (p.Leu365=) rs35804601
NM_213599.2(ANO5):c.1545A>G (p.Ser515=) rs35843353
NM_213599.2(ANO5):c.2259A>G (p.Ser753=) rs61746201
NM_213599.2(ANO5):c.2354T>G (p.Leu785Arg) rs146136277
NM_213599.2(ANO5):c.2387C>T (p.Ser796Leu) rs61910685
NM_213599.2(ANO5):c.2521-7C>T rs201438159
NM_213599.2(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.2(ANO5):c.604G>A (p.Glu202Lys) rs115750596
NM_213599.2(ANO5):c.616A>G (p.Thr206Ala) rs78266558
NM_213599.2(ANO5):c.800C>G (p.Thr267Ser) rs138144479
NM_213599.2(ANO5):c.879-7_879-6delTT rs143977836

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