ClinVar Miner

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

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Total variants: 17
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ANO5, IVS14DS, G-A, +5
NM_001142649.2(ANO5):c.2304_2305CA[2] (p.Gln770fs) rs137854528
NM_001142649.2(ANO5):c.986dup (p.Leu329fs) rs398124626
NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly) rs137854524
NM_213599.2(ANO5):c.1359C>G (p.Tyr453Ter) rs754889480
NM_213599.2(ANO5):c.1407+5G>A rs281865464
NM_213599.2(ANO5):c.1409T>G (p.Met470Arg) rs1403946332
NM_213599.2(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.2(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.2(ANO5):c.1755T>A (p.Tyr585Ter) rs1364860348
NM_213599.2(ANO5):c.191dupA rs137854521
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_213599.3(ANO5):c.1210C>T (p.Arg404Ter) rs566415362
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529

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