ClinVar Miner

List of variants in gene CD27 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001242.5(CD27):c.391C>T (p.Arg131Trp) rs150578547 0.00066
NM_001242.5(CD27):c.490G>C (p.Ala164Pro) rs146916740 0.00022
NM_001242.5(CD27):c.497T>G (p.Phe166Cys) rs139337300 0.00022
NM_001242.5(CD27):c.713G>A (p.Arg238Lys) rs75524088 0.00014
NM_001242.5(CD27):c.233G>A (p.Arg78Gln) rs145433356 0.00010
NM_001242.5(CD27):c.148G>A (p.Val50Met) rs763617266 0.00007
NM_001242.5(CD27):c.778C>T (p.Pro260Ser) rs752860747 0.00007
NM_001242.5(CD27):c.320G>A (p.Arg107His) rs376790183 0.00006
NM_001242.5(CD27):c.488T>C (p.Leu163Pro) rs958102669 0.00006
NM_001242.5(CD27):c.319C>T (p.Arg107Cys) rs371761387 0.00005
NM_001242.5(CD27):c.417C>A (p.His139Gln) rs144098443 0.00005
NM_001242.5(CD27):c.281G>A (p.Arg94His) rs367968738 0.00004
NM_001242.5(CD27):c.395C>T (p.Ser132Leu) rs765725985 0.00004
NM_001242.5(CD27):c.413C>T (p.Pro138Leu) rs373368586 0.00004
NM_001242.5(CD27):c.763G>C (p.Glu255Gln) rs766655010 0.00004
NM_001242.5(CD27):c.7C>T (p.Arg3Trp) rs755775043 0.00004
NM_001242.5(CD27):c.8G>A (p.Arg3Gln) rs776469650 0.00004
NM_001242.5(CD27):c.208T>C (p.Ser70Pro) rs868070072 0.00003
NM_001242.5(CD27):c.31G>A (p.Val11Ile) rs772449872 0.00003
NM_001242.5(CD27):c.721G>A (p.Glu241Lys) rs759504816 0.00003
NM_001242.5(CD27):c.122A>G (p.Gln41Arg) rs752259578 0.00002
NM_001242.5(CD27):c.254G>A (p.Arg85Gln) rs1404955716 0.00002
NM_001242.5(CD27):c.296C>T (p.Thr99Ile) rs1445443950 0.00002
NM_001242.5(CD27):c.371C>G (p.Pro124Arg) rs373809759 0.00002
NM_001242.5(CD27):c.388G>A (p.Ala130Thr) rs143035415 0.00002
NM_001242.5(CD27):c.38G>T (p.Gly13Val) rs769004909 0.00002
NM_001242.5(CD27):c.155A>G (p.Asp52Gly) rs753305875 0.00001
NM_001242.5(CD27):c.205G>T (p.Val69Phe) rs778001062 0.00001
NM_001242.5(CD27):c.206T>C (p.Val69Ala) rs749266346 0.00001
NM_001242.5(CD27):c.277G>A (p.Val93Ile) rs761113232 0.00001
NM_001242.5(CD27):c.353C>A (p.Thr118Asn) rs373598636 0.00001
NM_001242.5(CD27):c.464G>C (p.Arg155Thr) rs778598904 0.00001
NM_001242.5(CD27):c.467C>T (p.Thr156Ile) rs745333631 0.00001
NM_001242.5(CD27):c.712A>G (p.Arg238Gly) rs376329676 0.00001
NM_001242.5(CD27):c.766C>G (p.Pro256Ala) rs751930967 0.00001
NC_000012.11:g.(?_6554242)_(6560578_?)dup
NC_000012.11:g.(?_6559319)_(6559816_?)dup
NM_001242.5(CD27):c.101C>T (p.Ala34Val) rs1366450468
NM_001242.5(CD27):c.106G>A (p.Gly36Arg)
NM_001242.5(CD27):c.133C>T (p.Pro45Ser)
NM_001242.5(CD27):c.143T>A (p.Phe48Tyr) rs1949400735
NM_001242.5(CD27):c.15T>A (p.His5Gln) rs1259951366
NM_001242.5(CD27):c.15T>G (p.His5Gln)
NM_001242.5(CD27):c.166C>T (p.His56Tyr)
NM_001242.5(CD27):c.174G>T (p.Lys58Asn) rs2136960651
NM_001242.5(CD27):c.193T>G (p.Cys65Gly) rs1216605934
NM_001242.5(CD27):c.200C>G (p.Pro67Arg) rs748647585
NM_001242.5(CD27):c.200C>T (p.Pro67Leu)
NM_001242.5(CD27):c.202G>T (p.Gly68Trp) rs2136960721
NM_001242.5(CD27):c.223C>A (p.His75Asn) rs1199174513
NM_001242.5(CD27):c.226C>T (p.His76Tyr)
NM_001242.5(CD27):c.22T>C (p.Trp8Arg) rs1949394416
NM_001242.5(CD27):c.22T>G (p.Trp8Gly)
NM_001242.5(CD27):c.246G>C (p.Glu82Asp)
NM_001242.5(CD27):c.268+3G>A rs2136960836
NM_001242.5(CD27):c.269-3C>T rs1188316579
NM_001242.5(CD27):c.280C>G (p.Arg94Gly)
NM_001242.5(CD27):c.299C>T (p.Ala100Val) rs1309467835
NM_001242.5(CD27):c.329G>T (p.Trp110Leu)
NM_001242.5(CD27):c.355G>C (p.Glu119Gln)
NM_001242.5(CD27):c.359G>A (p.Cys120Tyr) rs1949502158
NM_001242.5(CD27):c.364C>A (p.Pro122Thr)
NM_001242.5(CD27):c.37G>A (p.Gly13Arg) rs146726863
NM_001242.5(CD27):c.37G>T (p.Gly13Trp) rs146726863
NM_001242.5(CD27):c.386C>G (p.Thr129Ser) rs1378651116
NM_001242.5(CD27):c.392G>A (p.Arg131Gln)
NM_001242.5(CD27):c.442G>A (p.Val148Ile)
NM_001242.5(CD27):c.448+13C>T rs1331194353
NM_001242.5(CD27):c.451A>G (p.Met151Val) rs749253347
NM_001242.5(CD27):c.505C>G (p.Leu169Val)
NM_001242.5(CD27):c.514C>G (p.Arg172Gly)
NM_001242.5(CD27):c.515G>A (p.Arg172Gln)
NM_001242.5(CD27):c.538C>T (p.Pro180Ser) rs757920860
NM_001242.5(CD27):c.67G>A (p.Ala23Thr) rs975388482
NM_001242.5(CD27):c.709C>T (p.Pro237Ser)
NM_001242.5(CD27):c.713G>C (p.Arg238Thr)
NM_001242.5(CD27):c.714G>T (p.Arg238Ser) rs770816422
NM_001242.5(CD27):c.73A>G (p.Lys25Glu) rs2136960265
NM_001242.5(CD27):c.761C>A (p.Pro254Gln) rs1462831179
NM_001242.5(CD27):c.779C>G (p.Pro260Arg)
NM_001242.5(CD27):c.88A>G (p.Arg30Gly) rs1265131135

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