ClinVar Miner

List of variants studied for Congenital dyserythropoietic anemia, type II by Illumina Laboratory Services, Illumina

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
NM_006363.6(SEC23B):c.-24C>T rs115614151 0.01204
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_006363.6(SEC23B):c.*657A>G rs114937628 0.00723
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758 0.00677
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689 0.00084
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 0.00046
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=) rs146587686 0.00028
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) rs201160833 0.00028
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=) rs139882548 0.00017
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=) rs201943863 0.00016
NM_006363.6(SEC23B):c.*494T>C rs561479544 0.00012
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile) rs202187007 0.00012
NM_006363.6(SEC23B):c.389T>C (p.Ile130Thr) rs773290230 0.00008
NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser) rs375734554 0.00006
NM_006363.6(SEC23B):c.*278T>C rs564007974 0.00004
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_006363.6(SEC23B):c.2143A>G (p.Ser715Gly) rs777442287 0.00002
NM_006363.6(SEC23B):c.*32T>G rs879811598 0.00001
NM_006363.6(SEC23B):c.*448C>T rs550932027 0.00001
NM_006363.6(SEC23B):c.*561A>C rs778992067 0.00001
NM_006363.6(SEC23B):c.1234-11A>G rs187699090 0.00001
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=) rs767683935 0.00001
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=) rs201656419 0.00001
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=) rs900752773 0.00001
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys) rs768018657 0.00001
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748 0.00001
NM_006363.6(SEC23B):c.236G>A (p.Arg79Gln) rs370537015 0.00001
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val) rs754320262 0.00001
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NM_006363.6(SEC23B):c.*178C>T rs2060486772
NM_006363.6(SEC23B):c.*292T>G rs886056526
NM_006363.6(SEC23B):c.*308A>G rs2060487651
NM_006363.6(SEC23B):c.*493A>G rs886056527
NM_006363.6(SEC23B):c.-8T>C rs766083236
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter) rs1403456625
NM_006363.6(SEC23B):c.1607C>A (p.Ala536Glu) rs535355543
NM_006363.6(SEC23B):c.202G>A (p.Ala68Thr) rs2059977778
NM_006363.6(SEC23B):c.2244T>C (p.Asp748=) rs748290215
NM_006363.6(SEC23B):c.708C>A (p.His236Gln) rs748683327
NM_006363.6(SEC23B):c.791G>A (p.Arg264Gln) rs148239360
NM_006363.6(SEC23B):c.85C>T (p.Leu29=) rs886056525

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