ClinVar Miner

List of variants studied for Brody myopathy by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_004320.6(ATP2A1):c.1184+1G>A rs551660089 0.00001
NM_004320.6(ATP2A1):c.2865del (p.Met955fs)
NM_004320.6(ATP2A1):c.324+1G>A rs1963456518

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