ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NC_000019.10:g.41860144_41860145insGCCA rs34020014
NM_001022.4(RPS19):c.1-2A>C
NM_001022.4(RPS19):c.356+169CT[2] rs369353222
NM_001022.4(RPS19):c.356+18G>C rs61762294

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