ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.106A>G (p.Thr36Ala) rs2513667216
NM_001022.4(RPS19):c.14del (p.Thr5fs) rs2513666004
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.311T>C (p.Leu104Pro)

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