ClinVar Miner

List of variants reported as likely pathogenic for congenital dyserythropoietic anemia type 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
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_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)

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