ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_006363.6(SEC23B):c.*657A>G rs114937628
NM_006363.6(SEC23B):c.-24C>T rs115614151
NM_006363.6(SEC23B):c.1233+9A>G rs6081189
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673
NM_006363.6(SEC23B):c.1405-7C>T rs2273525
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459
NM_006363.6(SEC23B):c.1743+168A>G rs111951711
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150
NM_006363.6(SEC23B):c.689+10C>T rs200020725
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758
NM_006363.6(SEC23B):c.835-7A>G rs184484121
NM_006363.6(SEC23B):c.993+19G>A rs144225458

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