ClinVar Miner

List of variants in gene EPS8 reported as benign by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004447.6(EPS8):c.2352G>A (p.Leu784=) rs1126786 0.16468
NM_004447.6(EPS8):c.516+6A>G rs73315036 0.05338
NM_004447.6(EPS8):c.2073A>G (p.Gln691=) rs61729666 0.01177
NM_004447.6(EPS8):c.2226-15dup rs35885542
NM_004447.6(EPS8):c.60-33TTA[12] rs201331879
NM_004447.6(EPS8):c.60-33TTA[8] rs201331879

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