ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
ANO5, IVS14DS, G-A, +5
NM_213599.2(ANO5):c.1210C>T (p.Arg404Ter) rs566415362
NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly) rs137854524
NM_213599.2(ANO5):c.1407+5G>A rs281865464
NM_213599.2(ANO5):c.1409T>G (p.Met470Arg) rs1403946332
NM_213599.2(ANO5):c.148C>T (p.Arg50Ter) rs1168346560
NM_213599.2(ANO5):c.1520delT (p.Phe507Serfs) rs794727158
NM_213599.2(ANO5):c.1622_1623insA (p.Met543Asnfs) rs281865480
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.2172_2178delTCATAGC (p.His725Terfs) rs794727231
NM_213599.2(ANO5):c.2235+1G>A rs886042442
NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys) rs137854529
NM_213599.2(ANO5):c.2311_2312delCA (p.Gln771Alafs) rs137854528
NM_213599.2(ANO5):c.41-1G>A rs398124625
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213599.2(ANO5):c.762+1G>A rs372221490
NM_213599.2(ANO5):c.813C>G (p.Tyr271Ter) rs1380525804
NM_213599.2(ANO5):c.989dupT (p.Leu330Phefs) rs398124626

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