List of variants in gene GBE1 reported as likely benign for adult polyglucosan body disease

Minimum submission review status:		Collection method:
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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.-102C>T	rs78982329	0.12619
NM_000158.4(GBE1):c.1716C>T (p.Asp572=)	rs2229520	0.01610
NM_000158.4(GBE1):c.*308C>T	rs141214861	0.00757
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)	rs35196441	0.00569
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)	rs193074572	0.00529
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)	rs28763902	0.00388
NM_000158.4(GBE1):c.405C>T (p.Leu135=)	rs139882066	0.00259
NM_000158.4(GBE1):c.24G>A (p.Ala8=)	rs28763906	0.00062
NM_000158.4(GBE1):c.1713C>T (p.Asp571=)	rs373148836	0.00046
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr)	rs201166587	0.00019
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)	rs202158511	0.00006
NM_000158.4(GBE1):c.-101C>T	rs886058903

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