ClinVar Miner

List of variants reported as benign for T-B+ severe combined immunodeficiency by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_002185.5(IL7R):c.82+16G>C rs1353252 0.71907
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_007074.4(CORO1A):c.336A>G (p.Pro112=) rs1132812 0.67557
NM_000732.6(CD3D):c.451-18T>G rs2276424 0.61431
NM_002185.5(IL7R):c.801-21A>T rs987106 0.53084
NM_000215.4(JAK3):c.3096+18A>G rs2302603 0.36048
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val) rs3194051 0.28365
NM_000733.4(CD3E):c.54C>T (p.Gly18=) rs1126924 0.25335
NM_002838.5(PTPRC):c.2143-19C>T rs6683595 0.22635
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932 0.21045
NM_002838.5(PTPRC):c.2316C>T (p.Gly772=) rs7540378 0.16920
NM_007074.4(CORO1A):c.1065+14G>A rs35900366 0.16173
NM_002185.5(IL7R):c.495C>T (p.His165=) rs2228141 0.13289
NM_000215.4(JAK3):c.1701+9A>G rs3212752 0.12273
NM_198053.3(CD247):c.219+16C>A rs12141641 0.10900
NM_198053.3(CD247):c.249C>T (p.Tyr83=) rs33937946 0.07227
NM_002185.5(IL7R):c.561G>A (p.Lys187=) rs11567764 0.03877
NM_002185.5(IL7R):c.538-14A>C rs11567763 0.03352
NM_000215.4(JAK3):c.1787-11dup rs397839895 0.02943
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_000215.4(JAK3):c.297G>C (p.Leu99=) rs3212716 0.02446
NM_198053.3(CD247):c.246G>A (p.Glu82=) rs34940956 0.01978
NM_002838.5(PTPRC):c.3780T>C (p.Asn1260=) rs1058191 0.01953
NM_002838.5(PTPRC):c.886A>C (p.Ile296Leu) rs2230606 0.01793
NM_002838.5(PTPRC):c.577A>G (p.Thr193Ala) rs4915154 0.01733
NM_002838.5(PTPRC):c.1829+19T>A rs10919562 0.01674
NM_002838.5(PTPRC):c.1029G>A (p.Gln343=) rs41314043 0.01439
NM_000215.4(JAK3):c.1254+20G>A rs3212742 0.01436
NM_002838.5(PTPRC):c.367G>C (p.Asp123His) rs41269905 0.01414
NM_000732.6(CD3D):c.406+18G>A rs28606580 0.01380
NM_002838.5(PTPRC):c.1829+14T>A rs72738067 0.01379
NM_002838.5(PTPRC):c.1710T>A (p.His570Gln) rs12136658 0.01344
NM_000215.4(JAK3):c.2259C>T (p.Ala753=) rs35458530 0.01034
NM_002838.5(PTPRC):c.3072+14T>C rs73087370 0.00959
NM_002838.5(PTPRC):c.1052A>G (p.Asn351Ser) rs79141749 0.00956
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NM_000733.4(CD3E):c.104-17C>T rs2231443 0.00897
NM_000733.4(CD3E):c.507C>T (p.Gly169=) rs2231447 0.00816
NM_000215.4(JAK3):c.1442-5C>T rs3212750 0.00758
NM_002838.5(PTPRC):c.1268C>T (p.Thr423Ile) rs6696162 0.00748
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_198053.3(CD247):c.300+8T>A rs56199250 0.00577
NM_000215.4(JAK3):c.2806-13C>T rs193156379 0.00498
NM_002185.5(IL7R):c.1241C>T (p.Thr414Met) rs2229232 0.00456
NM_007074.4(CORO1A):c.1101C>T (p.Thr367=) rs139282852 0.00446
NM_000733.4(CD3E):c.323C>T (p.Ala108Val) rs35299792 0.00427
NM_002185.5(IL7R):c.1231A>G (p.Thr411Ala) rs115316501 0.00398
NM_007074.4(CORO1A):c.804C>T (p.Ser268=) rs149867063 0.00385
NM_000215.4(JAK3):c.1548C>T (p.Ile516=) rs144203232 0.00372
NM_002185.5(IL7R):c.132C>T (p.Ser44=) rs11567704 0.00357
NM_002838.5(PTPRC):c.132A>G (p.Pro44=) rs115797104 0.00327
NM_007074.4(CORO1A):c.1065+9C>T rs117288362 0.00305
NM_000733.4(CD3E):c.103C>T (p.Pro35Ser) rs143949187 0.00295
NM_007074.4(CORO1A):c.1097C>A (p.Pro366His) rs150857828 0.00265
NM_000733.4(CD3E):c.498G>A (p.Ala166=) rs78373007 0.00262
NM_002838.5(PTPRC):c.3402C>T (p.Pro1134=) rs61757805 0.00238
NM_000215.4(JAK3):c.631A>C (p.Arg211=) rs56269787 0.00207
NM_000215.4(JAK3):c.108G>C (p.Gly36=) rs149701114 0.00201
NM_007074.4(CORO1A):c.738G>A (p.Gln246=) rs143729497 0.00201
NM_000206.3(IL2RG):c.858G>A (p.Thr286=) rs148001866 0.00189
NM_002838.5(PTPRC):c.154A>G (p.Thr52Ala) rs114764326 0.00175
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_007074.4(CORO1A):c.451+8G>A rs112123877 0.00131
NM_002185.5(IL7R):c.456A>C (p.Thr152=) rs112805866 0.00130
NM_007074.4(CORO1A):c.861+19G>A rs376463194 0.00127
NM_000733.4(CD3E):c.216T>C (p.Asp72=) rs2231444 0.00121
NM_002838.5(PTPRC):c.1704A>G (p.Leu568=) rs148811970 0.00109
NM_000215.4(JAK3):c.1995C>T (p.Pro665=) rs3212768 0.00108
NM_000215.4(JAK3):c.1131C>T (p.His377=) rs55802448 0.00098
NM_000215.4(JAK3):c.1710G>A (p.Leu570=) rs3212755 0.00098
NM_002838.5(PTPRC):c.1584G>A (p.Leu528=) rs148497366 0.00098
NM_000215.4(JAK3):c.2079C>T (p.Pro693=) rs145377049 0.00096
NM_002185.5(IL7R):c.1020T>G (p.Leu340=) rs138731184 0.00096
NM_002185.5(IL7R):c.1188T>C (p.Asn396=) rs145705481 0.00088
NM_198053.3(CD247):c.430-18G>A rs116757108 0.00086
NM_002185.5(IL7R):c.1200G>A (p.Val400=) rs140634356 0.00080
NM_000215.4(JAK3):c.1551T>A (p.Pro517=) rs143936463 0.00075
NM_000215.4(JAK3):c.2806-20C>G rs199653549 0.00069
NM_000733.4(CD3E):c.85+16C>T rs200489032 0.00068
NM_000215.4(JAK3):c.2862C>T (p.Asn954=) rs199553891 0.00066
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_000733.4(CD3E):c.408G>A (p.Val136=) rs143868906 0.00059
NM_002185.5(IL7R):c.239T>C (p.Val80Ala) rs200475138 0.00055
NM_000732.6(CD3D):c.56-17T>C rs202077439 0.00047
NM_000215.4(JAK3):c.3300C>T (p.Ser1100=) rs201073968 0.00041
NM_000206.3(IL2RG):c.282G>A (p.Ser94=) rs142807857 0.00039
NM_000215.4(JAK3):c.1453C>T (p.Leu485=) rs55883965 0.00035
NM_002185.5(IL7R):c.153G>A (p.Ser51=) rs149235072 0.00035
NM_002838.5(PTPRC):c.39C>T (p.Gly13=) rs141414674 0.00034
NM_000215.4(JAK3):c.696C>T (p.His232=) rs199902822 0.00029
NM_000215.4(JAK3):c.2235G>A (p.Pro745=) rs149207170 0.00026
NM_002838.5(PTPRC):c.2625C>T (p.Ala875=) rs138327021 0.00026
NM_007074.4(CORO1A):c.1146T>C (p.Gly382=) rs201734831 0.00024
NM_198053.3(CD247):c.337-7T>C rs36056000 0.00024
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) rs147424359 0.00023
NM_002185.5(IL7R):c.707G>A (p.Gly236Glu) rs201084372 0.00023
NM_002838.5(PTPRC):c.3813C>A (p.Leu1271=) rs142652490 0.00023
NM_000215.4(JAK3):c.1020G>A (p.Ser340=) rs201997916 0.00018
NM_002185.5(IL7R):c.759C>T (p.Val253=) rs201268331 0.00017
NM_198053.3(CD247):c.100C>T (p.Leu34=) rs181342622 0.00017
NM_000206.3(IL2RG):c.857C>T (p.Thr286Met) rs767758983 0.00014
NM_000206.3(IL2RG):c.1002G>A (p.Glu334=) rs376679881 0.00011
NM_000206.3(IL2RG):c.912C>T (p.His304=) rs145282692 0.00010
NM_000215.4(JAK3):c.3007A>G (p.Ile1003Val) rs137901277 0.00010
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met) rs375921454 0.00009
NM_007074.4(CORO1A):c.897C>T (p.Ser299=) rs535362943 0.00009
NM_000732.6(CD3D):c.510C>T (p.Asn170=) rs146997233 0.00008
NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp) rs200239526 0.00007
NM_000206.3(IL2RG):c.92A>G (p.Asn31Ser) rs749977756 0.00007
NM_000206.3(IL2RG):c.659C>T (p.Thr220Met) rs374102717 0.00006
NM_000206.3(IL2RG):c.754A>G (p.Lys252Glu) rs765748584 0.00006
NM_000733.4(CD3E):c.441G>A (p.Leu147=) rs528492194 0.00006
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr) rs778229878 0.00005
NM_000206.3(IL2RG):c.786C>T (p.Ala262=) rs374370835 0.00005
NM_000732.6(CD3D):c.275-18T>C rs200238286 0.00005
NM_002185.5(IL7R):c.283G>A (p.Glu95Lys) rs191585195 0.00005
NM_000206.3(IL2RG):c.269+17G>A rs746420476 0.00004
NM_000206.3(IL2RG):c.653G>A (p.Arg218His) rs763721645 0.00004
NM_000206.3(IL2RG):c.758-16T>C rs748876814 0.00004
NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu) rs775704953 0.00003
NM_000206.3(IL2RG):c.396C>T (p.Leu132=) rs201840981 0.00003
NM_000206.3(IL2RG):c.511G>C (p.Glu171Gln) rs763359860 0.00003
NM_000206.3(IL2RG):c.69G>A (p.Leu23=) rs748252421 0.00003
NM_000206.3(IL2RG):c.708T>C (p.His236=) rs750844357 0.00003
NM_198053.3(CD247):c.177A>G (p.Ala59=) rs373031213 0.00003
NM_198053.3(CD247):c.486C>T (p.Pro162=) rs190037664 0.00003
NM_000206.3(IL2RG):c.201C>T (p.Val67=) rs756100347 0.00002
NM_000206.3(IL2RG):c.407G>A (p.Arg136Gln) rs753502444 0.00002
NM_000206.3(IL2RG):c.455-8A>G rs781649645 0.00002
NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg) rs758693125 0.00002
NM_000206.3(IL2RG):c.75G>A (p.Thr25=) rs754951792 0.00002
NM_000206.3(IL2RG):c.87G>A (p.Thr29=) rs779772745 0.00002
NM_000206.3(IL2RG):c.953C>T (p.Ala318Val) rs370007902 0.00002
NM_000206.3(IL2RG):c.963G>A (p.Leu321=) rs181901993 0.00002
NM_000206.3(IL2RG):c.975C>T (p.Tyr325=) rs755664130 0.00002
NM_000215.4(JAK3):c.1187C>T (p.Pro396Leu) rs149047410 0.00002
NM_000215.4(JAK3):c.1843C>T (p.Arg615Cys) rs200075643 0.00002
NM_002185.5(IL7R):c.537+4T>C rs200625485 0.00002
NM_000206.3(IL2RG):c.159C>T (p.Ser53=) rs762084352 0.00001
NM_000206.3(IL2RG):c.348G>T (p.Gln116His) rs778547446 0.00001
NM_000206.3(IL2RG):c.567C>T (p.Tyr189=) rs773342053 0.00001
NM_000206.3(IL2RG):c.600A>C (p.Gln200His) rs767379303 0.00001
NM_000206.3(IL2RG):c.798T>C (p.Ser266=) rs764914063 0.00001
NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn) rs779190567 0.00001
NM_000215.4(JAK3):c.1915-20C>T rs564212195 0.00001
NM_000215.4(JAK3):c.2451C>T (p.Phe817=) rs201576913 0.00001
NM_000733.4(CD3E):c.353-11A>T rs199933802 0.00001
NM_002185.5(IL7R):c.306T>A (p.Ile102=) rs200241281 0.00001
NM_002838.5(PTPRC):c.1033+16T>C rs369473239 0.00001
NM_000206.3(IL2RG):c.594+16C>T
NM_000206.3(IL2RG):c.758-14del rs1432586413
NM_000206.3(IL2RG):c.924+12G>A
NM_000206.3(IL2RG):c.92A>T (p.Asn31Ile)
NM_000215.4(JAK3):c.1142+13C>A rs3212733
NM_000215.4(JAK3):c.1255-17del
NM_000215.4(JAK3):c.1255-19_1255-17dup rs749079957
NM_000215.4(JAK3):c.1441+9del
NM_000215.4(JAK3):c.1702-3del
NM_000215.4(JAK3):c.1786+13dup rs761961495
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000215.4(JAK3):c.2805+11dup
NM_000215.4(JAK3):c.2805+17dup rs2147676559
NM_000215.4(JAK3):c.308+16del rs3212717
NM_000215.4(JAK3):c.308+16dup rs3212717
NM_000215.4(JAK3):c.567-15del
NM_000215.4(JAK3):c.862-11dup
NM_000733.4(CD3E):c.353-5del
NM_000733.4(CD3E):c.521-15del rs2134768659
NM_000733.4(CD3E):c.568-16T>G
NM_000733.4(CD3E):c.568-3dup
NM_000733.4(CD3E):c.86-10dup
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr) rs41270321
NM_002185.5(IL7R):c.1092T>G (p.Asp364Glu) rs201216012
NM_002185.5(IL7R):c.876+12del
NM_002185.5(IL7R):c.876+12dup
NM_002838.5(PTPRC):c.101-15dup rs764105488
NM_002838.5(PTPRC):c.177C>G (p.Pro59=) rs17612648
NM_002838.5(PTPRC):c.1830-14dup
NM_002838.5(PTPRC):c.1864+18dup rs763565874
NM_002838.5(PTPRC):c.2278-6del
NM_002838.5(PTPRC):c.2561+25_2561+27dup
NM_002838.5(PTPRC):c.2561+26_2561+27del rs370217220
NM_002838.5(PTPRC):c.2561+26_2561+27dup
NM_002838.5(PTPRC):c.2561+27del rs370217220
NM_002838.5(PTPRC):c.2561+27dup
NM_002838.5(PTPRC):c.2848-4del rs57296163
NM_002838.5(PTPRC):c.2848-4dup
NM_002838.5(PTPRC):c.2848-5_2848-4del rs57296163
NM_002838.5(PTPRC):c.2938+19del
NM_002838.5(PTPRC):c.2938+19dup rs771097555
NM_002838.5(PTPRC):c.298+14del
NM_002838.5(PTPRC):c.3073-11dup rs572108683
NM_002838.5(PTPRC):c.3915T>G (p.Gly1305=)
NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn) rs201715157
NM_002838.5(PTPRC):c.659-12del rs539544931
NM_002838.5(PTPRC):c.659-12dup rs539544931
NM_002838.5(PTPRC):c.659-18T>C rs140243082
NM_007074.4(CORO1A):c.1065+13del
NM_007074.4(CORO1A):c.321+15G>T
NM_007074.4(CORO1A):c.843C>T (p.Ile281=) rs199650298
NM_198053.3(CD247):c.301-14G>A rs373120668

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