List of variants in gene GBE1 reported as pathogenic for Adult polyglucosan body disease; Glycogen storage disease, type IV

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.691+2T>C	rs192044702	0.00078
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)	rs137852888	0.00006
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)	rs137852886	0.00002
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
NM_000158.4(GBE1):c.1680C>G (p.Tyr560Ter)
NM_000158.4(GBE1):c.288del (p.Gly97fs)	rs1057517315
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)	rs80338671

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