ClinVar Miner

List of variants in gene ALG8 reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr)	rs17825668	0.02180
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln)	rs61995925	0.01476
NM_024079.5(ALG8):c.96-6G>C	rs199911532	0.00160
NM_024079.5(ALG8):c.369-6A>G	rs201483866

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