ClinVar Miner

List of variants in gene ANO5 reported as likely pathogenic for skeletal muscle disorder

Included ClinVar conditions (610):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 65
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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.2273G>A (p.Arg758His) rs369058382 0.00012
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_213599.3(ANO5):c.1103C>T (p.Thr368Met) rs760792371 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.173G>A (p.Arg58Gln) rs749698519 0.00003
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys) rs777607869 0.00002
NM_213599.3(ANO5):c.1823T>C (p.Ile608Thr) rs763783201 0.00002
NM_213599.3(ANO5):c.1120-1G>A rs561719071 0.00001
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp) rs529961953 0.00001
NM_213599.3(ANO5):c.2030-2A>T rs1187569251 0.00001
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln) rs926233739 0.00001
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu) rs575008764 0.00001
NC_000011.10:g.(?_22218246)_(22221210_?)del
NC_000011.10:g.(?_22272764)_(22276219_?)del
NC_000011.9:g.(22272558_22276916)_(22284590_22291857)del
NC_000011.9:g.(?_22225340)_(22261240_?)dup
NC_000011.9:g.(?_22247510)_(22261250_?)dup
NC_000011.9:g.(?_22257699)_(22261240_?)dup
NC_000011.9:g.(?_22297630)_(22301321_?)del
NM_213599.2(ANO5):c.[155A>G];[191dupA]
NM_213599.3(ANO5):c.1025G>A (p.Cys342Tyr)
NM_213599.3(ANO5):c.1180+1G>C
NM_213599.3(ANO5):c.1181-1G>A
NM_213599.3(ANO5):c.1261C>T (p.Gln421Ter) rs1554930314
NM_213599.3(ANO5):c.1333-2A>G rs2133730668
NM_213599.3(ANO5):c.1333-2A>T rs2133730668
NM_213599.3(ANO5):c.1418_1421delinsGGACGACACCAGTGACGA (p.Val473fs)
NM_213599.3(ANO5):c.1451G>A (p.Arg484His)
NM_213599.3(ANO5):c.1499C>T (p.Ser500Phe)
NM_213599.3(ANO5):c.1553G>A (p.Gly518Glu)
NM_213599.3(ANO5):c.1630+2T>G rs1590300702
NM_213599.3(ANO5):c.1631-12_1631-2del rs886043327
NM_213599.3(ANO5):c.1639C>G (p.Arg547Gly) rs747719953
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter) rs747719953
NM_213599.3(ANO5):c.1707C>G (p.Tyr569Ter)
NM_213599.3(ANO5):c.1767C>A (p.Tyr589Ter) rs188150039
NM_213599.3(ANO5):c.180+2T>C rs1564918396
NM_213599.3(ANO5):c.1801-1G>C rs2133750487
NM_213599.3(ANO5):c.1898+1del
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2029+2dup rs1057518855
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)
NM_213599.3(ANO5):c.2286C>G (p.Tyr762Ter)
NM_213599.3(ANO5):c.2414+1G>C rs2133795361
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.3(ANO5):c.294+1G>A
NM_213599.3(ANO5):c.295-1G>A rs780109230
NM_213599.3(ANO5):c.295-2A>G
NM_213599.3(ANO5):c.352del (p.Glu118fs) rs878854367
NM_213599.3(ANO5):c.364-1G>A rs1852871649
NM_213599.3(ANO5):c.395A>T (p.Lys132Met) rs1852872996
NM_213599.3(ANO5):c.396G>C (p.Lys132Asn) rs375867377
NM_213599.3(ANO5):c.40+2T>C
NM_213599.3(ANO5):c.649-2A>G rs773736505
NM_213599.3(ANO5):c.878+1G>A
NM_213599.3(ANO5):c.88-1G>A
NM_213599.3(ANO5):c.952G>C (p.Ala318Pro) rs2133702263
NM_213599.3(ANO5):c.[1520del];[155A>G]

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