ClinVar Miner

List of variants reported as uncertain significance for Diamond-Blackfan anemia 13

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001030001.4(RPS29):c.191G>T (p.Cys64Phe)
NM_001032.5(RPS29):c.63-6T>G	rs1594573747
NM_001032.5(RPS29):c.63-7C>A	rs763967610

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