ClinVar Miner

List of variants in gene GBE1 reported as pathogenic by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.691+2T>C	rs192044702	0.00078
NM_000158.4(GBE1):c.288del (p.Gly97fs)	rs1057517315

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