ClinVar Miner

List of variants studied for Congenital dyserythropoietic anemia

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006363.5(SEC23B):c.-232C>G rs4813333 0.83645
NM_138477.4(CDAN1):c.*463_*465del rs111961345 0.05900
NM_006363.5(SEC23B):c.-57G>C rs113396443 0.01206
NM_006363.5(SEC23B):c.-52T>G rs191103191 0.00681
NM_006363.5(SEC23B):c.-186G>T rs138178711 0.00524
NM_006363.5(SEC23B):c.-76G>C rs373348732 0.00050
NM_006363.5(SEC23B):c.-394A>C rs561908920 0.00006
NM_006363.5(SEC23B):c.-80G>A rs886056524 0.00001
NM_006363.5(SEC23B):c.-283C>T rs886056522
NM_006363.5(SEC23B):c.-301G>A rs886056521
NM_006363.5(SEC23B):c.-94C>G rs886056523
NM_006363.6(SEC23B):c.*318dup rs397793825
NM_006363.6(SEC23B):c.*9_*10del rs142180765
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006363.6(SEC23B):c.1233+25dup rs57738665
NM_016123.4(IRAK4):c.161+1G>A
NM_016123.4(IRAK4):c.86A>C (p.Gln29Pro)
NM_138477.4(CDAN1):c.*249GTTT[1] rs767935615
NM_138477.4(CDAN1):c.*775AACA[1] rs531320636
NM_138477.4(CDAN1):c.1489AGCCAC[3] (p.497SH[3]) rs778227051
NM_173469.4(UBE2Q2):c.884+2293G>A

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