ClinVar Miner

List of variants in gene ENO3 reported as benign for Glycogen storage disease due to muscle beta-enolase deficiency

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Total variants: 22
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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_053013.4(ENO3):c.1236-17C>T rs77614413 0.02756
NM_053013.4(ENO3):c.240+17G>A rs75279666 0.02755
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.1041C>T (p.Ile347=) rs114208569 0.00794
NM_053013.4(ENO3):c.1067+18C>T rs191862496 0.00268
NM_053013.4(ENO3):c.828C>T (p.Leu276=) rs35119507 0.00190
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_053013.4(ENO3):c.417G>A (p.Gly139=) rs142390642 0.00133
NM_053013.4(ENO3):c.1176+8T>C rs111926990 0.00128
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974 0.00076
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067 0.00006
NM_053013.4(ENO3):c.667+24dup rs754023017
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
NM_053013.4(ENO3):c.789G>A (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.86-3del rs151153333

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