ClinVar Miner

List of variants studied for Congenital dyserythropoietic anemia

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Total variants: 18
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HGVS dbSNP
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_032986.5(SEC23B):c.-15+132G>T rs138178711
NM_032986.5(SEC23B):c.-15+17G>A rs886056521
NM_032986.5(SEC23B):c.-15+224C>G rs886056523
NM_032986.5(SEC23B):c.-15+238G>A rs886056524
NM_032986.5(SEC23B):c.-15+242G>C rs373348732
NM_032986.5(SEC23B):c.-15+261G>C rs113396443
NM_032986.5(SEC23B):c.-15+266T>G rs191103191
NM_032986.5(SEC23B):c.-15+35C>T rs886056522
NM_032986.5(SEC23B):c.-15+86C>G rs4813333
NM_032986.5(SEC23B):c.-91A>C rs561908920
NM_138477.4(CDAN1):c.*249_*252GTTT[1] rs767935615
NM_138477.4(CDAN1):c.*463_*465del rs111961345
NM_138477.4(CDAN1):c.*775_*778AACA[1] rs531320636
NM_138477.4(CDAN1):c.1489_1494AGCCAC[3] (p.497_498SH[3]) rs778227051

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