ClinVar Miner

List of variants studied for Congenital dyserythropoietic anemia by Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016123.4(IRAK4):c.161+1G>A
NM_016123.4(IRAK4):c.86A>C (p.Gln29Pro)
NM_173469.4(UBE2Q2):c.884+2293G>A

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