ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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