ClinVar Miner

List of variants reported as benign for Glycogen storage disease due to muscle beta-enolase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_053013.4(ENO3):c.-3+3C>T rs366577 0.45968
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_053013.3(ENO3):c.-88G>A rs73343373 0.01987
NM_053013.4(ENO3):c.1235+3A>G rs73973669 0.01622
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_053013.4(ENO3):c.994G>A (p.Val332Ile) rs61735456 0.00983
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974 0.00076
NM_053013.4(ENO3):c.789G>A (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087

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