ClinVar Miner

List of variants reported as pathogenic for Microcephalic primordial dwarfism by MRC Institute of Genetics and Molecular Medicine, University of Edinburgh

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000946.3(PRIM1):c.103+1G>T	rs762016916
NM_000946.3(PRIM1):c.638+36C>G	rs1487483670
NM_000946.3(PRIM1):c.901T>C (p.Cys301Arg)	rs1953871835

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