ClinVar Miner

List of variants reported as pathogenic for Brody myopathy by Invitae

Included ClinVar conditions (1):
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Total variants: 11
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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.2311G>T (p.Glu771Ter)
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.909_920delinsACGGCATA (p.Val304fs) rs1555515558

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