List of variants studied for Glycogen storage disease due to muscle beta-enolase deficiency by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)	rs121918403	0.00019
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu)	rs121918404	0.00012
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys)	rs772218199	0.00001
NM_053013.4(ENO3):c.1070G>A (p.Cys357Tyr)	rs2151144481
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)	rs560867570

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