ClinVar Miner

List of variants reported as pathogenic for Diamond-Blackfan anemia 1 by Revvity Omics, Revvity

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)	rs61762293
NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)
NM_001022.4(RPS19):c.403_404del (p.Ala135fs)	rs2123285949

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