ClinVar Miner

List of variants in gene ATP2A1 reported as pathogenic for Brody myopathy

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Total variants: 15
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HGVS dbSNP
ATP2A1, 1-BP DEL, 437C
ATP2A1, IVS3DS, G-C, -2
NC_000016.9:g.(?_28889973)_(28915546_?)del
NM_004320.5(ATP2A1):c.1491T>G (p.Tyr497Ter) rs1409892710
NM_004320.5(ATP2A1):c.1740_1741CT[1] (p.Ser581fs) rs1421005631
NM_004320.5(ATP2A1):c.2025C>A (p.Cys675Ter) rs121918114
NM_004320.5(ATP2A1):c.2311G>T (p.Glu771Ter)
NM_004320.5(ATP2A1):c.2366C>T (p.Pro789Leu) rs121918115
NM_004320.5(ATP2A1):c.2371C>T (p.Gln791Ter)
NM_004320.5(ATP2A1):c.2464del (p.Arg822fs) rs751365374
NM_004320.5(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004320.5(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304
NM_004320.5(ATP2A1):c.53_56TGAG[1] (p.Ser19fs) rs770239154
NM_004320.5(ATP2A1):c.592C>T (p.Arg198Ter) rs121918113
NM_004320.5(ATP2A1):c.909_920delinsACGGCATA (p.Val304fs) rs1555515558

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