ClinVar Miner

List of variants in gene CD2AP reported as pathogenic for Focal segmental glomerulosclerosis 3, susceptibility to

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter) rs368795308 0.00002
NM_012120.3(CD2AP):c.1045+1G>A rs1393955970
NM_012120.3(CD2AP):c.1742dup (p.Asn581fs) rs773479372
NM_012120.3(CD2AP):c.730-1_730delinsCT rs1554181304

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