ClinVar Miner

List of variants reported as likely benign for congenital dyserythropoietic anemia type 2 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_006363.6(SEC23B):c.*278T>C
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461
NM_006363.6(SEC23B):c.689+10C>T rs200020725
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840
NM_006363.6(SEC23B):c.835-7A>G rs184484121

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