ClinVar Miner

List of variants in gene ANO5 studied for Gnathodiaphyseal dysplasia

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Total variants: 17
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HGVS dbSNP
NM_213599.2(ANO5):c.-156_-155insAGGGGAATGAGGAGGAGGAGGAGG rs71034576
NM_213599.2(ANO5):c.1066T>C (p.Cys356Arg) rs119103234
NM_213599.2(ANO5):c.1066T>G (p.Cys356Gly) rs119103234
NM_213599.2(ANO5):c.1078T>C (p.Cys360Arg) rs1554929292
NM_213599.2(ANO5):c.1541C>T (p.Thr514Ile) rs397514736
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213599.2(ANO5):c.1693_1715del (p.Phe565fs) rs1554931773
NM_213599.2(ANO5):c.2141C>G (p.Thr714Ser) rs200631556
NM_213599.2(ANO5):c.2387C>T (p.Ser796Leu) rs61910685
NM_213599.2(ANO5):c.259G>A (p.Val87Ile) rs34994927
NM_213599.2(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.2(ANO5):c.616A>G (p.Thr206Ala) rs78266558
NM_213599.2(ANO5):c.680G>C (p.Gly227Ala) rs140903276
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213599.3(ANO5):c.*113del rs5790246
NM_213599.3(ANO5):c.1013+1G>A rs1335126943
NM_213599.3(ANO5):c.860_863dup (p.Leu289fs) rs1590266513

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