ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
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.*278T>C rs564007974 0.00004
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser) rs375734554 0.00003
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.