ClinVar Miner

List of variants in gene EPS8 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004447.6(EPS8):c.2177C>T (p.Thr726Ile) rs150904526 0.00041
NM_004447.6(EPS8):c.793C>T (p.Arg265Cys) rs749500838 0.00003
NM_004447.6(EPS8):c.1396C>T (p.His466Tyr) rs747454900
NM_004447.6(EPS8):c.1789C>A (p.Arg597Ser) rs754905499

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