ClinVar Miner

List of variants in gene ANO5 studied for Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter) rs1168346560 0.00001
NM_213599.3(ANO5):c.424A>T (p.Thr142Ser) rs757367942 0.00001
NM_213599.3(ANO5):c.1081G>C (p.Asp361His) rs1554929295
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626

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