List of variants in gene GBE1 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)	rs28763904	0.00604
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)	rs193074572	0.00529
NM_000158.4(GBE1):c.691+2T>C	rs192044702	0.00078
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu)	rs377305989	0.00037
NM_000158.4(GBE1):c.1460A>G (p.Asp487Gly)	rs747404758	0.00003

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