ClinVar Miner

List of variants in gene GNPTAB reported by Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.3488del (p.Thr1163fs) rs1566067386

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