ClinVar Miner

List of variants reported as pathogenic for Anemia, congenital dyserythropoietic, type 1a by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)	rs80338699	0.00005
NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter)	rs1336651679

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