ClinVar Miner

List of variants in gene ATP2A1 reported as likely pathogenic by Invitae

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004320.6(ATP2A1):c.1184+1G>A rs551660089 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.2524+1G>A
NM_004320.6(ATP2A1):c.2525-1G>A
NM_004320.6(ATP2A1):c.2744+1G>A rs111266804
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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