List of variants studied for Diamond-Blackfan anemia 1 by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001022.3(RPS19):c.1-231_173-3418del
NM_001022.3(RPS19):c.[43G>T;164C>T]
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)	rs104894711
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter)	rs121908649
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)	rs61762293
NM_001022.4(RPS19):c.307del (p.Val103fs)	rs786200935
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)	rs786200936
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)	rs104894716
NM_001022.4(RPS19):c.[134_135inv;138_139dup]

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