ClinVar Miner

List of variants in gene ANO5 reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2L

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter) rs1488095558 0.00013
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00009
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter) rs566415362 0.00004
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) rs368970223 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527 0.00003
NM_213599.3(ANO5):c.2176dup (p.Ser726fs) rs797044667 0.00003
NM_213599.3(ANO5):c.762+1G>A rs372221490 0.00003
NM_213599.3(ANO5):c.1944_1945del (p.Lys650fs) rs1308707703 0.00002
NM_213599.3(ANO5):c.220C>T (p.Arg74Ter) rs749645231 0.00002
NM_213599.3(ANO5):c.1119+1G>T rs762946781 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.1407+5G>A rs281865464 0.00001
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter) rs1168346560 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg) rs912174567 0.00001
NM_213599.3(ANO5):c.2012A>G (p.Tyr671Cys) rs764261431 0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter) rs753138577 0.00001
NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter) rs762874007 0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs) rs770694933 0.00001
NC_000011.10:g.(?_22193483)_(22226062_?)del
NC_000011.9:g.(?_22215039)_(22225416_?)del
NC_000011.9:g.(?_22215039)_(22247618_?)del
NC_000011.9:g.(?_22225330)_(22225416_?)del
NC_000011.9:g.(?_22242623)_(22277088_?)del
NC_000011.9:g.(?_22242623)_(22301311_?)del
NC_000011.9:g.(?_22242633)_(22242766_?)del
NC_000011.9:g.(?_22261095)_(22261250_?)del
NC_000011.9:g.(?_22261105)_(22301321_?)del
NC_000011.9:g.(?_22276907)_(22301321_?)del
NC_000011.9:g.(?_22281045)_(22281307_?)del
NM_213599.3(ANO5):c.1045C>T (p.Gln349Ter) rs2133704072
NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter) rs1554929301
NM_213599.3(ANO5):c.108_109del (p.Glu36fs) rs886044020
NM_213599.3(ANO5):c.1158del (p.Phe386fs) rs1564936489
NM_213599.3(ANO5):c.1179G>A (p.Trp393Ter)
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter) rs1554930267
NM_213599.3(ANO5):c.1222del (p.Leu408fs) rs1853968715
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter) rs754889480
NM_213599.3(ANO5):c.1409T>G (p.Met470Arg) rs1403946332
NM_213599.3(ANO5):c.1516del (p.Ser506fs) rs1302414683
NM_213599.3(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.3(ANO5):c.1531C>T (p.Gln511Ter) rs1486335553
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.3(ANO5):c.1544C>A (p.Ser515Ter) rs1854126127
NM_213599.3(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter) rs747719953
NM_213599.3(ANO5):c.1656T>G (p.Tyr552Ter) rs2133747497
NM_213599.3(ANO5):c.1680del (p.Met560fs)
NM_213599.3(ANO5):c.1690C>T (p.Gln564Ter) rs2133747657
NM_213599.3(ANO5):c.1716C>A (p.Cys572Ter) rs368389717
NM_213599.3(ANO5):c.1737dup (p.Gly580fs) rs759064817
NM_213599.3(ANO5):c.1755T>A (p.Tyr585Ter) rs1364860348
NM_213599.3(ANO5):c.1784del (p.Glu595fs)
NM_213599.3(ANO5):c.1794_1798dup (p.Glu600fs)
NM_213599.3(ANO5):c.1873G>T (p.Gly625Ter)
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.1924C>T (p.Arg642Ter) rs146341538
NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys) rs563666662
NM_213599.3(ANO5):c.1964G>A (p.Trp655Ter)
NM_213599.3(ANO5):c.1965G>A (p.Trp655Ter)
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys) rs760137559
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer) rs794727231
NM_213599.3(ANO5):c.2193_2197del (p.Gln731fs) rs746738154
NM_213599.3(ANO5):c.2236-2_2238dup
NM_213599.3(ANO5):c.2273_2280dup (p.Tyr761delinsValTer)
NM_213599.3(ANO5):c.22G>T (p.Glu8Ter) rs1191668273
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs) rs137854528
NM_213599.3(ANO5):c.246del (p.Phe82fs)
NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter) rs747146523
NM_213599.3(ANO5):c.284_285del (p.Glu95fs)
NM_213599.3(ANO5):c.294+5G>A rs2133589044
NM_213599.3(ANO5):c.299del (p.Arg100fs) rs1064793358
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.340del (p.Glu114fs)
NM_213599.3(ANO5):c.352del (p.Glu118fs) rs878854367
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)
NM_213599.3(ANO5):c.412G>T (p.Glu138Ter) rs1554924356
NM_213599.3(ANO5):c.431_432del (p.Ala144fs)
NM_213599.3(ANO5):c.738C>G (p.Tyr246Ter) rs570341380
NM_213599.3(ANO5):c.766C>T (p.Gln256Ter) rs794727981
NM_213599.3(ANO5):c.773_774delinsAA (p.Trp258Ter) rs2133663216
NM_213599.3(ANO5):c.774G>A (p.Trp258Ter)
NM_213599.3(ANO5):c.775A>T (p.Lys259Ter) rs1590266227
NM_213599.3(ANO5):c.813C>G (p.Tyr271Ter) rs1380525804
NM_213599.3(ANO5):c.823C>T (p.Gln275Ter) rs766994696
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter) rs1564930625
NM_213599.3(ANO5):c.873_876del (p.Ile292fs) rs1458677325
NM_213599.3(ANO5):c.898dup (p.Ile300fs) rs1383346134
NM_213599.3(ANO5):c.989T>A (p.Leu330Ter) rs373814281
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626

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