ClinVar Miner

List of variants reported as uncertain significance for Diamond-Blackfan anemia 1 by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)	rs147508369	0.00039
NM_001022.4(RPS19):c.259G>A (p.Val87Ile)	rs782752734	0.00001
NM_001022.4(RPS19):c.72-15C>G	rs530537278

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