ClinVar Miner

List of variants studied for Combined immunodeficiency due to DOCK8 deficiency by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00806
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_203447.4(DOCK8):c.5207C>T (p.Ala1736Val) rs139990627 0.00024
NM_203447.4(DOCK8):c.223C>G (p.Leu75Val) rs368133450 0.00021
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln) rs200201944 0.00017
NM_203447.4(DOCK8):c.2594T>C (p.Val865Ala) rs373018701 0.00010
NM_203447.4(DOCK8):c.3234+2T>C rs756871628 0.00010
NM_203447.4(DOCK8):c.476C>T (p.Pro159Leu) rs537605467 0.00010
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys) rs535305490 0.00009
NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter) rs113203757 0.00001
NM_203447.4(DOCK8):c.1369G>T (p.Val457Phe) rs780612775
NM_203447.4(DOCK8):c.1529_1530del (p.Leu510fs)
NM_203447.4(DOCK8):c.1945_1951del (p.Phe649fs)
NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter) rs1287635563
NM_203447.4(DOCK8):c.2032C>T (p.Arg678Cys)
NM_203447.4(DOCK8):c.2T>C (p.Met1Thr) rs760902978
NM_203447.4(DOCK8):c.323C>T (p.Pro108Leu) rs375758495
NM_203447.4(DOCK8):c.3530+1G>A rs1564025732
NM_203447.4(DOCK8):c.529-2A>G
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter) rs775544616
NM_203447.4(DOCK8):c.5564del (p.Lys1855fs)
NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter) rs1418593569
NM_203447.4(DOCK8):c.653G>A (p.Ser218Asn)
NM_203447.4(DOCK8):c.742-15T>G rs111627162

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.