ClinVar Miner

List of variants reported as uncertain significance for Immunodeficiency 18

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000733.4(CD3E):c.*196C>G rs116370847 0.00330
NM_000733.4(CD3E):c.470C>T (p.Ala157Val) rs140639753 0.00083
NM_000733.4(CD3E):c.408G>A (p.Val136=) rs143868906 0.00059
NM_000733.4(CD3E):c.*522C>G rs200563411 0.00047
NM_000733.4(CD3E):c.49+3G>A rs202200315 0.00041
NM_000733.4(CD3E):c.88G>A (p.Gly30Ser) rs773135734 0.00019
NM_000733.4(CD3E):c.398T>C (p.Ile133Thr) rs200987721 0.00016
NM_000733.4(CD3E):c.202G>A (p.Gly68Ser) rs200087808 0.00012
NM_000733.4(CD3E):c.580G>A (p.Gly194Ser) rs141553540 0.00011
NM_000733.3(CD3E):c.*639T>C rs1415688813 0.00009
NM_000733.4(CD3E):c.*311C>T rs202056225 0.00009
NM_000733.3(CD3E):c.-166G>A rs886047735 0.00008
NM_000733.4(CD3E):c.103+10T>C rs143015515 0.00007
NM_000733.4(CD3E):c.448T>C (p.Tyr150His) rs146881885 0.00007
NM_000733.4(CD3E):c.441G>A (p.Leu147=) rs528492194 0.00006
NM_000733.4(CD3E):c.500G>T (p.Gly167Val) rs745493004 0.00006
NM_000733.4(CD3E):c.*559G>C rs909859167 0.00004
NM_000733.4(CD3E):c.-73T>C rs867899567 0.00004
NM_000733.4(CD3E):c.230G>A (p.Ser77Asn) rs202007244 0.00004
NM_000733.4(CD3E):c.520+5G>A rs765464852 0.00004
NM_000733.4(CD3E):c.575G>A (p.Arg192Gln) rs202052957 0.00004
NM_000733.4(CD3E):c.*247C>T rs200610341 0.00003
NM_000733.4(CD3E):c.255G>T (p.Lys85Asn) rs201263095 0.00003
NM_000733.4(CD3E):c.458A>C (p.Lys153Thr) rs200258299 0.00003
NM_000733.4(CD3E):c.499G>A (p.Gly167Ser) rs368489854 0.00003
NM_000733.4(CD3E):c.73A>G (p.Asn25Asp) rs201867379 0.00003
NM_000733.4(CD3E):c.116C>A (p.Ser39Tyr) rs369130631 0.00002
NM_000733.4(CD3E):c.617G>A (p.Arg206His) rs200083794 0.00002
NM_000733.4(CD3E):c.82A>C (p.Met28Leu) rs759815699 0.00002
NM_000733.4(CD3E):c.464G>A (p.Arg155Lys) rs764151020 0.00001
NM_000733.4(CD3E):c.548T>C (p.Val183Ala) rs148290036 0.00001
NM_000733.4(CD3E):c.55G>A (p.Val19Ile) rs143630318 0.00001
NM_000733.4(CD3E):c.611A>G (p.Gln204Arg) rs1291390174 0.00001
NM_000733.4(CD3E):c.8C>T (p.Ser3Leu) rs771841066 0.00001
NC_000011.9:g.(?_116691583)_(121500272_?)dup
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NM_000733.4(CD3E):c.*383C>T rs200729830
NM_000733.4(CD3E):c.*441C>T rs886047736
NM_000733.4(CD3E):c.*535C>G rs200286219
NM_000733.4(CD3E):c.*557T>C rs1948165620
NM_000733.4(CD3E):c.*604G>T rs1263009661
NM_000733.4(CD3E):c.119T>C (p.Ile40Thr) rs2134766495
NM_000733.4(CD3E):c.17A>C (p.His6Pro) rs1009249314
NM_000733.4(CD3E):c.202_228del (p.Gly68_Gly76del) rs758638097
NM_000733.4(CD3E):c.202_228dup (p.Gly68_Gly76dup) rs758638097
NM_000733.4(CD3E):c.211G>A (p.Asp71Asn) rs148647954
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000733.4(CD3E):c.221A>C (p.Asn74Thr) rs1948142751
NM_000733.4(CD3E):c.239A>C (p.Asp80Ala) rs2134766737
NM_000733.4(CD3E):c.292T>C (p.Cys98Arg) rs1948143376
NM_000733.4(CD3E):c.298C>A (p.Pro100Thr) rs201369123
NM_000733.4(CD3E):c.313C>A (p.Pro105Thr) rs1258864566
NM_000733.4(CD3E):c.323C>A (p.Ala108Glu) rs35299792
NM_000733.4(CD3E):c.353-5C>A rs374456909
NM_000733.4(CD3E):c.353-5C>G
NM_000733.4(CD3E):c.360G>C (p.Glu120Asp) rs1361788582
NM_000733.4(CD3E):c.409G>A (p.Asp137Asn)
NM_000733.4(CD3E):c.409G>T (p.Asp137Tyr) rs2134767843
NM_000733.4(CD3E):c.424G>C (p.Gly142Arg) rs2134767860
NM_000733.4(CD3E):c.439C>G (p.Leu147Val) rs748959958
NM_000733.4(CD3E):c.469G>T (p.Ala157Ser) rs1344416489
NM_000733.4(CD3E):c.475G>T (p.Ala159Ser)
NM_000733.4(CD3E):c.481C>G (p.Pro161Ala)
NM_000733.4(CD3E):c.490C>G (p.Arg164Gly)
NM_000733.4(CD3E):c.508G>A (p.Gly170Ser) rs199578380
NM_000733.4(CD3E):c.530del (p.Lys177fs) rs745496161
NM_000733.4(CD3E):c.542C>G (p.Pro181Arg) rs2134768706
NM_000733.4(CD3E):c.575G>C (p.Arg192Pro)
NM_000733.4(CD3E):c.587G>A (p.Arg196Gln)
NM_000733.4(CD3E):c.58T>G (p.Trp20Gly)
NM_000733.4(CD3E):c.59G>T (p.Trp20Leu) rs914391006
NM_000733.4(CD3E):c.623G>A (p.Ter208=)
NM_000733.4(CD3E):c.71G>T (p.Gly24Val)
NM_000733.4(CD3E):c.85+4A>G rs2134762623
NM_000733.4(CD3E):c.89G>C (p.Gly30Ala)
NM_000733.4(CD3E):c.99G>C (p.Gln33His) rs1948139036

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