ClinVar Miner

List of variants reported as pathogenic for Brody myopathy

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
ATP2A1, 1-BP DEL, 437C
ATP2A1, IVS3DS, G-C, -2
NC_000016.10:g.(?_28824392)_(28904205_?)del
NC_000016.10:g.(?_28878652)_(28904225_?)del
NM_004320.4(ATP2A1):c.2025C>A (p.Cys675Ter) rs121918114
NM_004320.4(ATP2A1):c.2366C>T (p.Pro789Leu) rs121918115
NM_004320.4(ATP2A1):c.2464dup (p.Arg822Profs) rs751365374
NM_004320.4(ATP2A1):c.592C>T (p.Arg198Ter) rs121918113
NM_004320.4(ATP2A1):c.909_920delTGTGGCTGCCATinsACGGCATA (p.Val304Argfs) rs1555515558
NM_173201.3(ATP2A1):c.1491T>G (p.Tyr497Ter)
NM_173201.3(ATP2A1):c.1742_1743delCT (p.Ser581Cysfs) rs1421005631
NM_173201.3(ATP2A1):c.2464delC (p.Arg822Glyfs) rs751365374
NM_173201.3(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304
NM_173201.3(ATP2A1):c.57_60delTGAG (p.Ser19Argfs)

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