List of variants studied for Brody myopathy by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=)	rs200596448	0.00001
NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter)	rs121918114	0.00001
NM_004320.6(ATP2A1):c.592C>T (p.Arg198Ter)	rs121918113	0.00001
NM_004320.6(ATP2A1):c.704T>A (p.Ile235Asn)	rs569683468	0.00001
NM_004320.6(ATP2A1):c.178del (p.Leu60fs)	rs2152196826
NM_004320.6(ATP2A1):c.200T>G (p.Leu67Arg)	rs2152196866
NM_004320.6(ATP2A1):c.219+1G>C	rs1963393226
NM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu)	rs121918115
NM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys)	rs538702357
NM_004320.6(ATP2A1):c.440del (p.Pro147fs)	rs748241465

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