ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 3 by OMIM

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Total variants: 4
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HGVS dbSNP
NM_007055.3(POLR3A):c.-6128_-995del
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806

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