ClinVar Miner

List of variants reported as pathogenic for cranial nerve neuropathy by Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS)

Included ClinVar conditions (194):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs) rs1567815105

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