List of variants in gene GBE1 reported by Pars Genome Lab

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)	rs2172397	0.97855
NM_000158.4(GBE1):c.-57G>A	rs2290081	0.38787
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)	rs2229519	0.29724
NM_000158.4(GBE1):c.-102C>T	rs78982329	0.12399
NM_000158.4(GBE1):c.143+10G>T	rs9820490	0.12295
NM_000158.4(GBE1):c.45G>A (p.Glu15=)	rs370326965	0.00014

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