ClinVar Miner

List of variants reported as pathogenic for congenital dyserythropoietic anemia by OMIM

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950 0.00218
NM_138477.4(CDAN1):c.1860+5G>A rs113313967 0.00051
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) rs120074166 0.00001
NM_001319999.2(RACGAP1):c.1187T>A (p.Leu396Gln) rs1948102480
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001367805.3(KIF23):c.2789C>G (p.Pro930Arg) rs2140422904
NM_001367805.3(KIF23):c.2875del (p.Leu959fs) rs2140424959
NM_002049.4(GATA1):c.220+1del rs587776453
NM_002049.4(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.4(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_006563.5(KLF1):c.973G>A (p.Glu325Lys) rs267607201
NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) rs120074169
NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) rs120074168
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697

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