ClinVar Miner

List of variants in gene PRIM1 reported as pathogenic by MRC Institute of Genetics and Molecular Medicine, University of Edinburgh

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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

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