List of variants in gene ESPN reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_031475.3(ESPN):c.1265G>A (p.Arg422Gln)	rs79108571	0.01005
NM_031475.3(ESPN):c.1069C>T (p.Pro357Ser)	rs116413227	0.00941
NM_031475.3(ESPN):c.2070G>A (p.Ser690=)	rs142850918	0.00511
NM_031475.3(ESPN):c.706C>G (p.Gln236Glu)	rs6678405	0.00483
NM_031475.3(ESPN):c.1386A>G (p.Val462=)	rs150033799	0.00296
NM_031475.3(ESPN):c.1248G>A (p.Pro416=)	rs139332523	0.00163
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn)	rs121908135	0.00013
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu)	rs189442618	0.00012
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del)	rs548962140
NM_031475.3(ESPN):c.702C>G (p.Ser234=)	rs367944375

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