List of variants reported as likely pathogenic for qualitative or quantitative defects of protein SERCA1 by Revvity Omics, Revvity

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004320.6(ATP2A1):c.1216C>T (p.Gln406Ter)	rs760995377	0.00001
NM_004320.6(ATP2A1):c.1764_1764+2delinsTGG	rs1596682330
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs)	rs751365374
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter)	rs368234110
NM_004320.6(ATP2A1):c.2682del (p.Glu895fs)	rs2152215136
NM_004320.6(ATP2A1):c.324+1G>A	rs1963456518

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