List of variants reported as likely pathogenic for Brody myopathy

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_004320.6(ATP2A1):c.1184+1G>A	rs551660089	0.00001
NM_004320.6(ATP2A1):c.1216C>T (p.Gln406Ter)	rs760995377	0.00001
NM_004320.6(ATP2A1):c.2322-2A>G	rs1964095605	0.00001
NM_004320.6(ATP2A1):c.118+1G>A	rs992119026
NM_004320.6(ATP2A1):c.118+1G>T
NM_004320.6(ATP2A1):c.1764_1764+2delinsTGG	rs1596682330
NM_004320.6(ATP2A1):c.2284C>T (p.Arg762Cys)	rs758893778
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs)	rs751365374
NM_004320.6(ATP2A1):c.2524+1G>A
NM_004320.6(ATP2A1):c.2525-1G>A
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter)	rs368234110
NM_004320.6(ATP2A1):c.2682del (p.Glu895fs)	rs2152215136
NM_004320.6(ATP2A1):c.2744+1G>A	rs111266804
NM_004320.6(ATP2A1):c.324+1G>A	rs1963456518
NM_004320.6(ATP2A1):c.324+1G>C	rs1963456518
NM_004320.6(ATP2A1):c.325-2A>T	rs1567479853
NM_004320.6(ATP2A1):c.544+1G>A
NM_004320.6(ATP2A1):c.928+1dup	rs2152204111

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