ClinVar Miner

List of variants reported as likely benign for combined immunodeficiency due to OX40 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 111
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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.371-16C>T rs34108055
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=)

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