ClinVar Miner

List of variants studied for Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024420.3(PLA2G4A):c.1962T>G (p.Gly654=) rs12720691 0.00020
NM_024420.3(PLA2G4A):c.1454G>A (p.Arg485His) rs121434635
NM_024420.3(PLA2G4A):c.1723G>C (p.Asp575His) rs1557895416
NM_024420.3(PLA2G4A):c.2118+4_2118+7del rs1557901999
NM_024420.3(PLA2G4A):c.331T>C (p.Ser111Pro) rs121434634
NM_024420.3(PLA2G4A):c.494dup (p.Arg166fs) rs1571392612
NM_024420.3(PLA2G4A):c.607del (p.Val203fs)

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