List of variants in gene ESPN reported as uncertain significance 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_031475.3(ESPN):c.337C>T (p.Arg113Cys)	rs143577178	0.00024
NM_031475.3(ESPN):c.2504G>A (p.Ser835Asn)	rs727503039	0.00018
NM_031475.3(ESPN):c.1025C>T (p.Ser342Phe)	rs199502924	0.00009
NM_031475.3(ESPN):c.1094C>T (p.Pro365Leu)	rs201251427	0.00006
NM_031475.3(ESPN):c.1016G>A (p.Arg339Gln)	rs148390614	0.00003
NM_031475.3(ESPN):c.439G>A (p.Ala147Thr)	rs727504727	0.00002
NM_031475.3(ESPN):c.2026A>G (p.Thr676Ala)	rs727504842	0.00001
NM_031475.3(ESPN):c.2120C>T (p.Pro707Leu)	rs576917953	0.00001
NM_031475.3(ESPN):c.2552T>G (p.Ile851Ser)	rs752357040	0.00001
NM_031475.3(ESPN):c.931C>A (p.Leu311Met)	rs766939513	0.00001
NM_031475.3(ESPN):c.382G>T (p.Gly128Cys)	rs145666801
NM_031475.3(ESPN):c.871C>G (p.Leu291Val)	rs1348183531

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