ClinVar Miner

List of variants reported as pathogenic for Diamond-Blackfan anemia 9

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Total variants: 3

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HGVS	dbSNP
NM_001014.5(RPS10):c.260dup (p.Glu88fs)	rs1581931541
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)	rs267607022
NM_001014.5(RPS10):c.3G>A (p.Met1Ile)	rs267607021

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