ClinVar Miner

List of variants reported as pathogenic for Microcephaly 5, primary, autosomal recessive by Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS)

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.2085G>A (p.Trp695Ter) rs1553227021
NM_018136.5(ASPM):c.3974dup (p.Tyr1325Ter) rs1553225179

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