ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 3 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NC_000010.11:g.78054989C>T rs76653255 0.06196
NC_000010.11:g.78054561T>C rs72642283 0.03823
NC_000010.11:g.78054841A>G rs140177297 0.00947
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00736
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NC_000010.11:g.78054851C>T

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