ClinVar Miner

List of variants in gene combination TNFSF12, TNFSF12-TNFSF13 reported as uncertain significance for common variable immunodeficiency

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_003809.3(TNFSF12):c.157C>A (p.Gln53Lys) rs532271559 0.00026
NM_003809.3(TNFSF12):c.353G>A (p.Gly118Glu) rs144468031 0.00019
NM_003809.3(TNFSF12):c.443G>A (p.Arg148His) rs200059075 0.00016
NM_003809.3(TNFSF12):c.623G>A (p.Arg208His) rs376560567 0.00011
NM_003809.3(TNFSF12):c.109C>T (p.Leu37Phe) rs756671729 0.00007
NM_003809.3(TNFSF12):c.143C>T (p.Ala48Val) rs1411564411 0.00006
NM_003809.3(TNFSF12):c.365C>T (p.Ala122Val) rs145233196 0.00006
NM_003809.3(TNFSF12):c.655C>T (p.Arg219Trp) rs764236967 0.00006
NM_003809.3(TNFSF12):c.304C>T (p.Arg102Trp) rs150816164 0.00004
NM_003809.3(TNFSF12):c.386C>A (p.Thr129Lys) rs746536507 0.00004
NM_003809.3(TNFSF12):c.662G>C (p.Gly221Ala) rs764630895 0.00004
NM_003809.3(TNFSF12):c.142G>C (p.Ala48Pro) rs1368698594 0.00003
NM_003809.3(TNFSF12):c.245C>T (p.Ala82Val) rs370085069 0.00003
NM_003809.3(TNFSF12):c.295C>T (p.Arg99Trp) rs748479475 0.00003
NM_003809.3(TNFSF12):c.622C>T (p.Arg208Cys) rs777759037 0.00003
NM_003809.3(TNFSF12):c.679C>T (p.Arg227Cys) rs1414804824 0.00003
NM_003809.3(TNFSF12):c.197A>G (p.Gln66Arg) rs1390303105 0.00002
NM_003809.3(TNFSF12):c.469C>T (p.Arg157Trp) rs763175605 0.00002
NM_003809.3(TNFSF12):c.674G>A (p.Arg225Gln) rs576689580 0.00002
NM_003809.3(TNFSF12):c.716T>C (p.Phe239Ser) rs761947704 0.00002
NM_003809.3(TNFSF12):c.134G>A (p.Gly45Glu) rs2070971132 0.00001
NM_003809.3(TNFSF12):c.137G>C (p.Ser46Thr) rs1386396522 0.00001
NM_003809.3(TNFSF12):c.194A>C (p.Asp65Ala) rs747019973 0.00001
NM_003809.3(TNFSF12):c.284C>A (p.Ala95Glu) rs1187061850 0.00001
NM_003809.3(TNFSF12):c.296G>A (p.Arg99Gln) rs770131727 0.00001
NM_003809.3(TNFSF12):c.305G>A (p.Arg102Gln) rs749853561 0.00001
NM_003809.3(TNFSF12):c.310C>T (p.Arg104Ter) rs1432703775 0.00001
NM_003809.3(TNFSF12):c.326C>T (p.Ala109Val) rs1207281513 0.00001
NM_003809.3(TNFSF12):c.337+5G>A rs1196455086 0.00001
NM_003809.3(TNFSF12):c.374G>A (p.Gly125Asp) rs765689290 0.00001
NM_003809.3(TNFSF12):c.433C>T (p.Arg145Cys) rs540997935 0.00001
NM_003809.3(TNFSF12):c.442C>T (p.Arg148Cys) rs764223156 0.00001
NM_003809.3(TNFSF12):c.554G>A (p.Gly185Asp) rs149050050 0.00001
NM_003809.3(TNFSF12):c.569G>A (p.Arg190His) rs1191670290 0.00001
NM_003809.3(TNFSF12):c.596C>T (p.Ala199Val) rs753366720 0.00001
NC_000017.10:g.(?_7452471)_(7454315_?)dup
NM_003809.3(TNFSF12):c.106G>A (p.Gly36Ser) rs2070970743
NM_003809.3(TNFSF12):c.109del (p.Leu37fs)
NM_003809.3(TNFSF12):c.11G>C (p.Arg4Pro)
NM_003809.3(TNFSF12):c.128G>A (p.Ser43Asn) rs2150904090
NM_003809.3(TNFSF12):c.139C>G (p.Arg47Gly)
NM_003809.3(TNFSF12):c.139C>T (p.Arg47Trp)
NM_003809.3(TNFSF12):c.154G>A (p.Ala52Thr) rs2070971587
NM_003809.3(TNFSF12):c.159+3G>A
NM_003809.3(TNFSF12):c.159+5G>C rs200575102
NM_003809.3(TNFSF12):c.164C>T (p.Pro55Leu) rs764718533
NM_003809.3(TNFSF12):c.177G>C (p.Glu59Asp) rs868687352
NM_003809.3(TNFSF12):c.187G>A (p.Glu63Lys)
NM_003809.3(TNFSF12):c.189GGA[1] (p.Glu64del) rs2150904255
NM_003809.3(TNFSF12):c.190G>A (p.Glu64Lys)
NM_003809.3(TNFSF12):c.196C>T (p.Gln66Ter)
NM_003809.3(TNFSF12):c.201C>A (p.Asp67Glu)
NM_003809.3(TNFSF12):c.205_207dup (p.Ser69dup) rs753259588
NM_003809.3(TNFSF12):c.207+3G>C
NM_003809.3(TNFSF12):c.208-3T>C
NM_003809.3(TNFSF12):c.222G>C (p.Gln74His) rs2070984006
NM_003809.3(TNFSF12):c.242C>T (p.Pro81Leu)
NM_003809.3(TNFSF12):c.247C>A (p.Pro83Thr)
NM_003809.3(TNFSF12):c.259C>T (p.Arg87Ter)
NM_003809.3(TNFSF12):c.266T>C (p.Val89Ala) rs2070984742
NM_003809.3(TNFSF12):c.269G>A (p.Arg90Gln) rs745967426
NM_003809.3(TNFSF12):c.274C>G (p.Arg92Gly)
NM_003809.3(TNFSF12):c.274C>T (p.Arg92Cys) rs758492571
NM_003809.3(TNFSF12):c.275_276delinsAA (p.Arg92Gln) rs2070984989
NM_003809.3(TNFSF12):c.284-3C>T
NM_003809.3(TNFSF12):c.295C>G (p.Arg99Gly)
NM_003809.3(TNFSF12):c.310C>G (p.Arg104Gly)
NM_003809.3(TNFSF12):c.316G>A (p.Ala106Thr)
NM_003809.3(TNFSF12):c.317C>T (p.Ala106Val) rs369851985
NM_003809.3(TNFSF12):c.323C>T (p.Ala108Val)
NM_003809.3(TNFSF12):c.347G>A (p.Arg116Gln) rs771459468
NM_003809.3(TNFSF12):c.350C>A (p.Pro117His)
NM_003809.3(TNFSF12):c.358G>A (p.Asp120Asn)
NM_003809.3(TNFSF12):c.361G>A (p.Gly121Arg)
NM_003809.3(TNFSF12):c.364G>A (p.Ala122Thr) rs2070995050
NM_003809.3(TNFSF12):c.376G>A (p.Val126Met)
NM_003809.3(TNFSF12):c.398G>A (p.Trp133Ter) rs2150909054
NM_003809.3(TNFSF12):c.412A>C (p.Ile138Leu)
NM_003809.3(TNFSF12):c.434G>A (p.Arg145His) rs1295184449
NM_003809.3(TNFSF12):c.440A>T (p.Asn147Ile) rs371762842
NM_003809.3(TNFSF12):c.451G>A (p.Gly151Arg)
NM_003809.3(TNFSF12):c.454G>A (p.Glu152Lys)
NM_003809.3(TNFSF12):c.470G>A (p.Arg157Gln)
NM_003809.3(TNFSF12):c.503A>C (p.His168Pro)
NM_003809.3(TNFSF12):c.506T>C (p.Phe169Ser)
NM_003809.3(TNFSF12):c.528C>A (p.Tyr176Ter)
NM_003809.3(TNFSF12):c.563C>T (p.Ala188Val) rs2071082084
NM_003809.3(TNFSF12):c.569G>C (p.Arg190Pro) rs1191670290
NM_003809.3(TNFSF12):c.576GGA[1] (p.Glu194del) rs2150909548
NM_003809.3(TNFSF12):c.607C>T (p.Leu203Phe)
NM_003809.3(TNFSF12):c.610G>A (p.Gly204Arg) rs746979506
NM_003809.3(TNFSF12):c.610G>C (p.Gly204Arg)
NM_003809.3(TNFSF12):c.629G>T (p.Cys210Phe)
NM_003809.3(TNFSF12):c.655C>G (p.Arg219Gly)
NM_003809.3(TNFSF12):c.673C>T (p.Arg225Trp) rs761260715
NM_003809.3(TNFSF12):c.680G>A (p.Arg227His)
NM_003809.3(TNFSF12):c.691T>C (p.Trp231Arg) rs2071085086
NM_003809.3(TNFSF12):c.707C>T (p.Ala236Val) rs2071085410
NM_003809.3(TNFSF12):c.713C>G (p.Pro238Arg)
NM_003809.3(TNFSF12):c.718C>T (p.Leu240Phe)
NM_003809.3(TNFSF12):c.730G>A (p.Gly244Arg)
NM_003809.3(TNFSF12):c.739C>A (p.Gln247Lys)

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