ClinVar Miner

List of variants reported as likely benign for congenital dyserythropoietic anemia type 2 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=) rs146587686
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala) rs143456757
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=) rs138623580
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=) rs139882548
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=) rs779351917
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile) rs202187007
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440

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