ClinVar Miner

List of variants reported as pathogenic for Diamond-Blackfan anemia 3

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Total variants: 5
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NM_001142283.1(RPS24):c.148A>C (p.Thr50Pro) rs1554841994
NM_001142283.1(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_001142283.1(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_001142283.1(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806

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