ClinVar Miner

List of variants reported as likely pathogenic for congenital dyserythropoietic anemia

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696 0.00008
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_138477.4(CDAN1):c.3200G>A (p.Arg1067His) rs146049960 0.00002
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser) rs587777101 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro) rs1595503440
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006363.6(SEC23B):c.1109+1G>C
NM_006363.6(SEC23B):c.113del (p.Leu38fs)
NM_006363.6(SEC23B):c.1233_1233+1dup
NM_006363.6(SEC23B):c.1314+1G>A
NM_006363.6(SEC23B):c.1314_1314+10del
NM_006363.6(SEC23B):c.1404+5G>A rs1555789463
NM_006363.6(SEC23B):c.1511+2_1511+5del
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
NM_006363.6(SEC23B):c.1905+1G>A
NM_006363.6(SEC23B):c.221+1G>A
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn) rs1600288964
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
NM_006363.6(SEC23B):c.279+1G>A
NM_006363.6(SEC23B):c.366+1G>A
NM_006363.6(SEC23B):c.367-1G>T
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly) rs761034212
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter) rs2145927881
NM_006563.5(KLF1):c.913+1G>A rs483352840
NM_016123.4(IRAK4):c.161+1G>A
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu) rs140334403
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp) rs138334226
NM_138477.4(CDAN1):c.230del (p.Gly77fs)
NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
NM_138477.4(CDAN1):c.788del (p.Gln263fs)
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)

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