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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_053013.4(ENO3):c.417G>A (p.Gly139=)	rs142390642	0.00133
NM_053013.4(ENO3):c.249C>T (p.Ser83=)	rs145859308	0.00016
NM_053013.4(ENO3):c.1235+7C>T	rs759839410	0.00007
NM_053013.4(ENO3):c.11A>C (p.Gln4Pro)	rs138211167	0.00004
NM_053013.4(ENO3):c.1047G>A (p.Ser349=)	rs527864393	0.00003
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu)	rs763327091	0.00003
NM_053013.4(ENO3):c.1160G>A (p.Gly387Glu)	rs761121808	0.00002
NM_053013.4(ENO3):c.554G>T (p.Gly185Val)	rs200324278	0.00002
NM_053013.4(ENO3):c.555C>T (p.Gly185=)	rs757606682	0.00002
NM_053013.4(ENO3):c.363G>A (p.Ala121=)	rs201872558	0.00001
NM_053013.4(ENO3):c.785A>G (p.Lys262Arg)	rs886053166	0.00001
NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu)	rs1971740543
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser)	rs143749502
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)	rs560867570
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys)	rs199677913
NM_053013.4(ENO3):c.788C>T (p.Ser263Leu)	rs748865733
NM_053013.4(ENO3):c.834del (p.Glu278fs)	rs779920188

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