ClinVar Miner

List of variants studied for Roifman syndrome by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NC_000002.12:g.121530995A>T rs982261295
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NR_023343.3(RNU4ATAC):n.46G>A rs1032667950

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