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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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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.1287T>C (p.Tyr429=)	rs33956726	0.02242
NM_004447.6(EPS8):c.2073A>G (p.Gln691=)	rs61729666	0.01177
NM_004447.6(EPS8):c.213T>C (p.Thr71=)	rs2230644	0.01052
NM_004447.6(EPS8):c.1555C>T (p.Arg519Cys)	rs76688635	0.00956
NM_004447.6(EPS8):c.2283T>G (p.Asp761Glu)	rs7137185	0.00754
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr)	rs78763451	0.00634
NM_004447.6(EPS8):c.1482T>C (p.Ser494=)	rs75560906	0.00602
NM_004447.6(EPS8):c.2099T>C (p.Ile700Thr)	rs111934716	0.00241
NM_004447.6(EPS8):c.1434+14del	rs750651749
NM_004447.6(EPS8):c.2226-15dup	rs35885542

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