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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_053013.4(ENO3):c.-88G>A	rs73343373	0.01987
NM_053013.4(ENO3):c.993C>T (p.Ala331=)	rs2230257	0.01604
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu)	rs121918404	0.00012
NM_053013.4(ENO3):c.789G>C (p.Ser263=)	rs75748087
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup)	rs1567672833

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