ClinVar Miner

List of variants studied for congenital dyserythropoietic anemia type 2 by Invitae

Included ClinVar conditions (2):
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Total variants: 40
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HGVS dbSNP
NC_000020.11:g.(?_18512225)_(18515736_?)del
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689
NM_006363.6(SEC23B):c.1233+4C>T rs201883785
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.1404+5G>A rs1555789463
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.1507C>T (p.Arg503Ter) rs1568617456
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461
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.1649G>A (p.Arg550Gln) rs111572459
NM_006363.6(SEC23B):c.1665+6T>C rs371786580
NM_006363.6(SEC23B):c.1743+168A>G rs111951711
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.2008C>T (p.Arg670Cys)
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile) rs202187007
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met) rs752664090
NM_006363.6(SEC23B):c.221+3A>G
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) rs201160833
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer) rs1555788144
NM_006363.6(SEC23B):c.689+10C>T rs200020725
NM_006363.6(SEC23B):c.689+1G>A rs398124226
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_006363.6(SEC23B):c.835-7A>G rs184484121
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile) rs1363436677
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser) rs143417821
NM_006363.6(SEC23B):c.993+19G>A rs144225458

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