ClinVar Miner

List of variants in gene AP4E1 reported as benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.222+18G>A rs1147129 0.56600
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333

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