ClinVar Miner

List of variants reported as pathogenic for anemia, congenital dyserythropoietic, type 1a by Revvity Omics, Revvity

Included ClinVar conditions (1):

Anemia, congenital dyserythropoietic, type 1a

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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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.1055_1056del (p.Leu352fs)	rs2140505826
NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs)	rs2140471687

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