ClinVar Miner

List of variants studied for hyper-IgM syndrome type 1 by Invitae

Included ClinVar conditions (2):
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Minimum conflict level:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
NM_000074.3(CD40LG):c.148T>C (p.Leu50=) rs1126535 0.18453
NM_000074.2(CD40LG):c.-191A>C rs36206512 0.02791
NM_000074.3(CD40LG):c.684A>G (p.Val228=) rs11575983 0.01089
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_000074.3(CD40LG):c.81A>G (p.Leu27=) rs36063307 0.00313
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu) rs144827029 0.00057
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln) rs145115086 0.00024
NM_000074.3(CD40LG):c.708G>A (p.Ser236=) rs146620753 0.00016
NM_000074.3(CD40LG):c.487G>A (p.Val163Ile) rs199914973 0.00014
NM_000074.3(CD40LG):c.38C>T (p.Ala13Val) rs368003929 0.00012
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr) rs147340102 0.00011
NM_000074.3(CD40LG):c.114G>A (p.Gly38=) rs767319189 0.00010
NM_000074.3(CD40LG):c.30C>G (p.Pro10=) rs375387574 0.00010
NM_000074.3(CD40LG):c.600A>G (p.Arg200=) rs374246579 0.00010
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser) rs769728462 0.00009
NM_000074.3(CD40LG):c.594C>T (p.Pro198=) rs370353192 0.00008
NM_000074.3(CD40LG):c.369G>A (p.Ala123=) rs148581967 0.00007
NM_000074.3(CD40LG):c.39G>A (p.Ala13=) rs779460863 0.00006
NM_000074.3(CD40LG):c.314C>T (p.Thr105Met) rs376582437 0.00005
NM_000074.3(CD40LG):c.741G>C (p.Val247=) rs764969326 0.00005
NM_000074.3(CD40LG):c.204G>A (p.Thr68=) rs775209130 0.00003
NM_000074.3(CD40LG):c.327C>A (p.Asn109Lys) rs1318466267 0.00003
NM_000074.3(CD40LG):c.6C>T (p.Ile2=) rs767236871 0.00003
NM_000074.3(CD40LG):c.379A>G (p.Ile127Val) rs1052924444 0.00002
NM_000074.3(CD40LG):c.409+12A>G rs759260732 0.00002
NM_000074.3(CD40LG):c.551C>T (p.Ser184Leu) rs371041193 0.00002
NM_000074.3(CD40LG):c.156+11C>A rs776610381 0.00001
NM_000074.3(CD40LG):c.156+17G>A rs755782893 0.00001
NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe) rs1338696512 0.00001
NM_000074.3(CD40LG):c.288+6C>T rs773041323 0.00001
NM_000074.3(CD40LG):c.290A>G (p.Asp97Gly) rs1004051141 0.00001
NM_000074.3(CD40LG):c.315G>A (p.Thr105=) rs778398894 0.00001
NM_000074.3(CD40LG):c.330C>A (p.Ser110Arg) rs368691563 0.00001
NM_000074.3(CD40LG):c.360T>C (p.Pro120=) rs2076118899 0.00001
NM_000074.3(CD40LG):c.368C>T (p.Ala123Val) rs104894778 0.00001
NM_000074.3(CD40LG):c.387G>A (p.Glu129=) rs746052549 0.00001
NM_000074.3(CD40LG):c.393C>G (p.Ser131Arg) rs1210201609 0.00001
NM_000074.3(CD40LG):c.394A>C (p.Ser132Arg) rs770773481 0.00001
NM_000074.3(CD40LG):c.409+14C>T rs376624219 0.00001
NM_000074.3(CD40LG):c.409+17C>T rs1195970071 0.00001
NM_000074.3(CD40LG):c.478C>G (p.Gln160Glu) rs767889061 0.00001
NM_000074.3(CD40LG):c.562C>G (p.Pro188Ala) rs1245452261 0.00001
NM_000074.3(CD40LG):c.654C>T (p.Cys218=) rs368157256 0.00001
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp) rs1477466218 0.00001
NM_000074.3(CD40LG):c.7G>A (p.Glu3Lys) rs1350282799 0.00001
NC_000023.10:g.(?_135067662)_(136652229_?)del
NC_000023.10:g.(?_135730388)_(135737600_?)del
NC_000023.10:g.(?_135730408)_(135741574_?)dup
NC_000023.10:g.(?_135738495)_(135741594_?)del
NC_000023.11:g.(?_136648058)_(136654450_?)del
NC_000023.11:g.(?_136648058)_(136659435_?)del
NC_000023.11:g.(?_136650246)_(136654450_?)del
NC_000023.11:g.(?_136654353)_(136654450_?)del
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys) rs104894774
NM_000074.3(CD40LG):c.107T>C (p.Met36Thr) rs104894774
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.108G>A (p.Met36Ile) rs2076095000
NM_000074.3(CD40LG):c.111_141del (p.Gly38fs)
NM_000074.3(CD40LG):c.122T>C (p.Leu41Pro) rs2148550578
NM_000074.3(CD40LG):c.133del (p.Tyr45fs) rs2076095044
NM_000074.3(CD40LG):c.137T>G (p.Leu46Arg)
NM_000074.3(CD40LG):c.138del (p.His47fs)
NM_000074.3(CD40LG):c.156+12C>T
NM_000074.3(CD40LG):c.156+18C>T
NM_000074.3(CD40LG):c.156+1G>A
NM_000074.3(CD40LG):c.156+2T>C rs2148550585
NM_000074.3(CD40LG):c.156+4A>G rs2148550590
NM_000074.3(CD40LG):c.156+7T>A
NM_000074.3(CD40LG):c.157-15G>C
NM_000074.3(CD40LG):c.157-16T>C
NM_000074.3(CD40LG):c.157-19C>T
NM_000074.3(CD40LG):c.158_161del
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter) rs2148550523
NM_000074.3(CD40LG):c.165T>C (p.Asp55=)
NM_000074.3(CD40LG):c.180T>C (p.His60=)
NM_000074.3(CD40LG):c.191T>C (p.Val64Ala)
NM_000074.3(CD40LG):c.203C>T (p.Thr68Met) rs2148551094
NM_000074.3(CD40LG):c.208C>G (p.Gln70Glu) rs2148551102
NM_000074.3(CD40LG):c.208C>T (p.Gln70Ter)
NM_000074.3(CD40LG):c.222A>G (p.Thr74=)
NM_000074.3(CD40LG):c.232T>C (p.Ser78Pro) rs200672738
NM_000074.3(CD40LG):c.237A>G (p.Leu79=)
NM_000074.3(CD40LG):c.249C>T (p.Asn83=)
NM_000074.3(CD40LG):c.264A>G (p.Lys88=)
NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)
NM_000074.3(CD40LG):c.270G>A (p.Gln90=)
NM_000074.3(CD40LG):c.270G>C (p.Gln90His)
NM_000074.3(CD40LG):c.288+20del rs758537361
NM_000074.3(CD40LG):c.289-14G>C rs2148552371
NM_000074.3(CD40LG):c.289-14G>T
NM_000074.3(CD40LG):c.289-17A>G
NM_000074.3(CD40LG):c.289-18C>A rs1186292119
NM_000074.3(CD40LG):c.289-18C>T rs1186292119
NM_000074.3(CD40LG):c.289-19G>A
NM_000074.3(CD40LG):c.289-19G>T rs2148552369
NM_000074.3(CD40LG):c.289-1G>A rs2148552379
NM_000074.3(CD40LG):c.289-27G>T
NM_000074.3(CD40LG):c.289-7A>G
NM_000074.3(CD40LG):c.299T>A (p.Leu100Ter)
NM_000074.3(CD40LG):c.304_314del (p.Lys102fs) rs1569376925
NM_000074.3(CD40LG):c.312G>A (p.Glu104=) rs1305903200
NM_000074.3(CD40LG):c.314C>A (p.Thr105Lys)
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.322_325del (p.Glu108fs) rs1569376930
NM_000074.3(CD40LG):c.340del (p.Gln114fs)
NM_000074.3(CD40LG):c.346+12A>G
NM_000074.3(CD40LG):c.346+14T>A
NM_000074.3(CD40LG):c.346+16G>T
NM_000074.3(CD40LG):c.346+17C>T
NM_000074.3(CD40LG):c.346+1G>A rs2148552407
NM_000074.3(CD40LG):c.346+1G>T
NM_000074.3(CD40LG):c.346+5G>A rs2148552412
NM_000074.3(CD40LG):c.346+5_346+11dup
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys) rs2148552406
NM_000074.3(CD40LG):c.347-14T>C
NM_000074.3(CD40LG):c.347-18T>A
NM_000074.3(CD40LG):c.347-18T>C
NM_000074.3(CD40LG):c.347-6T>A
NM_000074.3(CD40LG):c.347-915A>T
NM_000074.3(CD40LG):c.347G>A (p.Gly116Asp) rs2148552902
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.3(CD40LG):c.375T>C (p.His125=)
NM_000074.3(CD40LG):c.376G>T (p.Val126Phe) rs2148552915
NM_000074.3(CD40LG):c.384T>C (p.Ser128=) rs104894773
NM_000074.3(CD40LG):c.385G>T (p.Glu129Ter) rs1215852570
NM_000074.3(CD40LG):c.386del (p.Glu129fs) rs2076119100
NM_000074.3(CD40LG):c.388G>A (p.Ala130Thr)
NM_000074.3(CD40LG):c.38C>A (p.Ala13Glu)
NM_000074.3(CD40LG):c.400ACA[1] (p.Thr135del) rs1490893550
NM_000074.3(CD40LG):c.401del (p.Thr134fs) rs2076119189
NM_000074.3(CD40LG):c.409+1G>C rs2148552941
NM_000074.3(CD40LG):c.409+2T>C
NM_000074.3(CD40LG):c.410-15C>G
NM_000074.3(CD40LG):c.410-3_410-2del rs1603321716
NM_000074.3(CD40LG):c.410-5A>G
NM_000074.3(CD40LG):c.410-7G>A
NM_000074.3(CD40LG):c.420G>C (p.Trp140Cys)
NM_000074.3(CD40LG):c.429A>C (p.Lys143Asn) rs1569377744
NM_000074.3(CD40LG):c.430G>A (p.Gly144Arg) rs2076126859
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu) rs886039326
NM_000074.3(CD40LG):c.431del (p.Gly144fs)
NM_000074.3(CD40LG):c.433T>A (p.Tyr145Asn) rs762639528
NM_000074.3(CD40LG):c.438C>G (p.Tyr146Ter)
NM_000074.3(CD40LG):c.43del (p.Thr15fs)
NM_000074.3(CD40LG):c.440C>A (p.Thr147Asn) rs1057521127
NM_000074.3(CD40LG):c.470A>C (p.Asn157Thr)
NM_000074.3(CD40LG):c.470del (p.Asn157fs) rs2148553684
NM_000074.3(CD40LG):c.474del (p.Lys159fs) rs2076126996
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter) rs767889061
NM_000074.3(CD40LG):c.479A>C (p.Gln160Pro)
NM_000074.3(CD40LG):c.499G>A (p.Gly167Arg)
NM_000074.3(CD40LG):c.49C>G (p.Leu17Val) rs1359082888
NM_000074.3(CD40LG):c.500G>T (p.Gly167Val)
NM_000074.3(CD40LG):c.504C>T (p.Leu168=)
NM_000074.3(CD40LG):c.505TAT[1] (p.Tyr170del) rs1603321765
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs) rs2076127075
NM_000074.3(CD40LG):c.510T>G (p.Tyr170Ter)
NM_000074.3(CD40LG):c.512T>A (p.Ile171Asn)
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His) rs2076127133
NM_000074.3(CD40LG):c.514T>G (p.Tyr172Asp)
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)
NM_000074.3(CD40LG):c.516T>C (p.Tyr172=)
NM_000074.3(CD40LG):c.518C>T (p.Ala173Val)
NM_000074.3(CD40LG):c.519C>A (p.Ala173=)
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter) rs1603321772
NM_000074.3(CD40LG):c.525C>T (p.Val175=)
NM_000074.3(CD40LG):c.527C>T (p.Thr176Ile)
NM_000074.3(CD40LG):c.542G>A (p.Arg181Gln) rs11575982
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000074.3(CD40LG):c.552G>A (p.Ser184=)
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter) rs2076127276
NM_000074.3(CD40LG):c.559del (p.Ala187fs) rs1556143529
NM_000074.3(CD40LG):c.589T>G (p.Ser197Ala)
NM_000074.3(CD40LG):c.594dup (p.Gly199fs)
NM_000074.3(CD40LG):c.597T>C (p.Gly199=)
NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter) rs2148553738
NM_000074.3(CD40LG):c.603C>T (p.Phe201=)
NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr) rs2076127596
NM_000074.3(CD40LG):c.60C>G (p.Ser20Arg)
NM_000074.3(CD40LG):c.618C>G (p.Leu206=)
NM_000074.3(CD40LG):c.618C>T (p.Leu206=) rs2148553751
NM_000074.3(CD40LG):c.621A>G (p.Arg207=) rs2148553754
NM_000074.3(CD40LG):c.633C>A (p.Thr211=)
NM_000074.3(CD40LG):c.642C>T (p.Ser214=)
NM_000074.3(CD40LG):c.643G>A (p.Ala215Thr)
NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter) rs1085307733
NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter) rs1603321834
NM_000074.3(CD40LG):c.667A>G (p.Ile223Val)
NM_000074.3(CD40LG):c.673T>C (p.Leu225=)
NM_000074.3(CD40LG):c.676G>A (p.Gly226Arg) rs1603321840
NM_000074.3(CD40LG):c.686T>C (p.Phe229Ser) rs1569377865
NM_000074.3(CD40LG):c.691T>C (p.Leu231=)
NM_000074.3(CD40LG):c.692T>G (p.Leu231Trp)
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter) rs2076127875
NM_000074.3(CD40LG):c.698C>T (p.Pro233Leu)
NM_000074.3(CD40LG):c.701del (p.Gly234fs)
NM_000074.3(CD40LG):c.708G>C (p.Ser236=)
NM_000074.3(CD40LG):c.720T>C (p.Asn240=)
NM_000074.3(CD40LG):c.73A>G (p.Met25Val) rs2076094894
NM_000074.3(CD40LG):c.740T>C (p.Val247Ala)
NM_000074.3(CD40LG):c.747T>C (p.His249=)
NM_000074.3(CD40LG):c.750C>A (p.Gly250=)
NM_000074.3(CD40LG):c.750C>T (p.Gly250=)
NM_000074.3(CD40LG):c.753T>A (p.Thr251=)
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
NM_000074.3(CD40LG):c.756del (p.Phe253fs)
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys) rs193922136
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser) rs1057521128
NM_000074.3(CD40LG):c.773T>C (p.Leu258Ser) rs1569377884

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