ClinVar Miner

List of variants reported as likely benign for Combined immunodeficiency due to OX40 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003327.4(TNFRSF4):c.470C>T (p.Pro157Leu) rs150220682 0.00185
NM_003327.4(TNFRSF4):c.649G>A (p.Ala217Thr) rs375611972 0.00143
NM_003327.4(TNFRSF4):c.293T>C (p.Leu98Pro) rs150516264 0.00142
NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr) rs150407012 0.00090
NM_003327.4(TNFRSF4):c.619G>A (p.Val207Met) rs201461846 0.00085
NM_003327.4(TNFRSF4):c.333G>A (p.Ala111=) rs142751158 0.00036
NM_003327.4(TNFRSF4):c.75C>T (p.Thr25=) rs142774962 0.00036
NM_003327.4(TNFRSF4):c.543C>T (p.Gly181=) rs756542209 0.00029
NM_003327.4(TNFRSF4):c.177C>T (p.Ser59=) rs144102157 0.00024
NM_003327.4(TNFRSF4):c.682C>T (p.Leu228=) rs372578101 0.00024
NM_003327.4(TNFRSF4):c.111C>T (p.Pro37=) rs200983968 0.00015
NM_003327.4(TNFRSF4):c.207G>A (p.Pro69=) rs555467061 0.00011
NM_003327.4(TNFRSF4):c.486G>A (p.Ser162=) rs199860102 0.00010
NM_003327.4(TNFRSF4):c.408C>T (p.Gly136=) rs367869917 0.00006
NM_003327.4(TNFRSF4):c.7G>C (p.Val3Leu) rs751046781 0.00006
NM_003327.4(TNFRSF4):c.132C>T (p.His44=) rs375760850 0.00005
NM_003327.4(TNFRSF4):c.423C>T (p.Cys141=) rs771531096 0.00004
NM_003327.4(TNFRSF4):c.437+14C>A rs778519697 0.00004
NM_003327.4(TNFRSF4):c.370+8C>A rs376518717 0.00003
NM_003327.4(TNFRSF4):c.378C>A (p.Ala126=) rs538592266 0.00003
NM_003327.4(TNFRSF4):c.489C>T (p.Asp163=) rs768010168 0.00003
NM_003327.4(TNFRSF4):c.510C>T (p.Asp170=) rs368736683 0.00003
NM_003327.4(TNFRSF4):c.679C>T (p.Leu227=) rs1234350697 0.00003
NM_003327.4(TNFRSF4):c.150C>T (p.Asn50=) rs374671814 0.00002
NM_003327.4(TNFRSF4):c.255G>A (p.Thr85=) rs201768518 0.00002
NM_003327.4(TNFRSF4):c.764-8C>T rs758336413 0.00002
NM_003327.4(TNFRSF4):c.117C>T (p.Asn39=) rs771662473 0.00001
NM_003327.4(TNFRSF4):c.145+17G>A rs750396022 0.00001
NM_003327.4(TNFRSF4):c.146-18C>T rs767867744 0.00001
NM_003327.4(TNFRSF4):c.219C>T (p.Asn73=) rs746769533 0.00001
NM_003327.4(TNFRSF4):c.269-10C>T rs1370393670 0.00001
NM_003327.4(TNFRSF4):c.300G>C (p.Thr100=) rs184488968 0.00001
NM_003327.4(TNFRSF4):c.36G>A (p.Pro12=) rs777345366 0.00001
NM_003327.4(TNFRSF4):c.370+11T>C rs1649243786 0.00001
NM_003327.4(TNFRSF4):c.634+9G>A rs1164078859 0.00001
NM_003327.4(TNFRSF4):c.816C>T (p.Ser272=) rs775834591 0.00001
NM_003327.4(TNFRSF4):c.145+20C>G
NM_003327.4(TNFRSF4):c.145+20C>T
NM_003327.4(TNFRSF4):c.146-17G>A
NM_003327.4(TNFRSF4):c.146-32_146-15dup
NM_003327.4(TNFRSF4):c.146-4G>A rs1017055990
NM_003327.4(TNFRSF4):c.146-4G>T
NM_003327.4(TNFRSF4):c.186G>A (p.Thr62=) rs376354151
NM_003327.4(TNFRSF4):c.186G>C (p.Thr62=) rs376354151
NM_003327.4(TNFRSF4):c.186G>T (p.Thr62=)
NM_003327.4(TNFRSF4):c.18G>C (p.Arg6=)
NM_003327.4(TNFRSF4):c.198G>A (p.Pro66=)
NM_003327.4(TNFRSF4):c.198G>T (p.Pro66=)
NM_003327.4(TNFRSF4):c.201C>T (p.Cys67=)
NM_003327.4(TNFRSF4):c.213C>T (p.Phe71=)
NM_003327.4(TNFRSF4):c.22C>T (p.Leu8=) rs2100956977
NM_003327.4(TNFRSF4):c.234C>T (p.Ser78=)
NM_003327.4(TNFRSF4):c.240G>A (p.Pro80=)
NM_003327.4(TNFRSF4):c.268+10C>T
NM_003327.4(TNFRSF4):c.268+17C>T
NM_003327.4(TNFRSF4):c.269-16dup
NM_003327.4(TNFRSF4):c.269-18C>G rs749945507
NM_003327.4(TNFRSF4):c.269-18C>T rs749945507
NM_003327.4(TNFRSF4):c.269-19C>G rs193151776
NM_003327.4(TNFRSF4):c.269-8C>T rs2100954128
NM_003327.4(TNFRSF4):c.269-9C>T
NM_003327.4(TNFRSF4):c.300G>A (p.Thr100=)
NM_003327.4(TNFRSF4):c.30C>G (p.Arg10=)
NM_003327.4(TNFRSF4):c.30C>T (p.Arg10=)
NM_003327.4(TNFRSF4):c.318C>G (p.Val106=)
NM_003327.4(TNFRSF4):c.351C>T (p.Asp117=) rs146733335
NM_003327.4(TNFRSF4):c.360G>A (p.Lys120=) rs1260329169
NM_003327.4(TNFRSF4):c.36G>C (p.Pro12=)
NM_003327.4(TNFRSF4):c.370+15T>C
NM_003327.4(TNFRSF4):c.370+18G>A rs531691331
NM_003327.4(TNFRSF4):c.370+8C>T rs376518717
NM_003327.4(TNFRSF4):c.370+9G>A
NM_003327.4(TNFRSF4):c.371-16C>A
NM_003327.4(TNFRSF4):c.387T>C (p.Pro129=) rs2100952972
NM_003327.4(TNFRSF4):c.393G>A (p.Gly131=)
NM_003327.4(TNFRSF4):c.402C>T (p.Ser134=)
NM_003327.4(TNFRSF4):c.426G>A (p.Lys142=)
NM_003327.4(TNFRSF4):c.437+20G>T
NM_003327.4(TNFRSF4):c.437+8G>A rs566351921
NM_003327.4(TNFRSF4):c.438-14C>T
NM_003327.4(TNFRSF4):c.438-15C>T
NM_003327.4(TNFRSF4):c.438-17C>T
NM_003327.4(TNFRSF4):c.438-20C>T
NM_003327.4(TNFRSF4):c.495C>A (p.Ile165=)
NM_003327.4(TNFRSF4):c.543C>A (p.Gly181=) rs756542209
NM_003327.4(TNFRSF4):c.546C>T (p.Pro182=) rs2100950598
NM_003327.4(TNFRSF4):c.549G>A (p.Pro183=) rs757761946
NM_003327.4(TNFRSF4):c.549G>T (p.Pro183=)
NM_003327.4(TNFRSF4):c.54C>T (p.Leu18=)
NM_003327.4(TNFRSF4):c.634+11C>T
NM_003327.4(TNFRSF4):c.634+12T>A
NM_003327.4(TNFRSF4):c.634+16C>T rs764775188
NM_003327.4(TNFRSF4):c.634+18_634+19delinsCC rs2100950235
NM_003327.4(TNFRSF4):c.635-13C>A rs892501040
NM_003327.4(TNFRSF4):c.635-44_635-15del rs2100950028
NM_003327.4(TNFRSF4):c.648C>T (p.Ala216=)
NM_003327.4(TNFRSF4):c.654C>A (p.Ile218=)
NM_003327.4(TNFRSF4):c.669G>A (p.Leu223=) rs1649129048
NM_003327.4(TNFRSF4):c.687C>A (p.Gly229=) rs879206506
NM_003327.4(TNFRSF4):c.6C>T (p.Cys2=) rs202161001
NM_003327.4(TNFRSF4):c.702G>A (p.Leu234=) rs2100949704
NM_003327.4(TNFRSF4):c.738G>T (p.Leu246=) rs2100949567
NM_003327.4(TNFRSF4):c.756G>A (p.Lys252=)
NM_003327.4(TNFRSF4):c.764-16C>T
NM_003327.4(TNFRSF4):c.774T>C (p.Ser258=)
NM_003327.4(TNFRSF4):c.78G>T (p.Val26=)
NM_003327.4(TNFRSF4):c.798G>A (p.Glu266=) rs1557505168
NM_003327.4(TNFRSF4):c.807C>T (p.Asp269=)
NM_003327.4(TNFRSF4):c.81G>A (p.Thr27=)
NM_003327.4(TNFRSF4):c.96C>T (p.Val32=)

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.