ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr) rs146584017 0.00062
NM_001033855.3(DCLRE1C):c.973-1801T>A rs557886549 0.00027
NM_002185.5(IL7R):c.707G>A (p.Gly236Glu) rs201084372 0.00023
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr) rs151077440 0.00021
NM_000022.4(ADA):c.930G>A (p.Met310Ile) rs145924854 0.00019
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103 0.00019
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097 0.00015
NM_000215.4(JAK3):c.896T>C (p.Val299Ala) rs571404212 0.00012
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_000215.4(JAK3):c.2291C>T (p.Pro764Leu) rs149982493 0.00011
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn) rs773799685 0.00009
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val) rs193922462 0.00007
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907 0.00007
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737 0.00006
NM_001033855.3(DCLRE1C):c.526A>G (p.Ile176Val) rs182977883 0.00006
NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu) rs772391197 0.00006
NM_001369369.1(FOXN1):c.361G>A (p.Ala121Thr) rs182334974 0.00006
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717 0.00005
NM_000022.4(ADA):c.934A>C (p.Lys312Gln) rs530131290 0.00005
NM_002185.5(IL7R):c.539A>C (p.His180Pro) rs193922642 0.00005
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala) rs374270413 0.00004
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln) rs779159378 0.00004
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala) rs756366535 0.00004
NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile) rs754602932 0.00004
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln) rs760897653 0.00004
NM_001369369.1(FOXN1):c.124-17A>T rs376727518 0.00004
NM_000022.4(ADA):c.578T>A (p.Leu193His) rs767083081 0.00003
NM_000022.4(ADA):c.622G>A (p.Gly208Ser) rs761846813 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000206.3(IL2RG):c.821T>C (p.Ile274Thr) rs370677485 0.00003
NM_000448.3(RAG1):c.37T>G (p.Ser13Ala) rs760746448 0.00003
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu) rs746658739 0.00003
NM_001033855.3(DCLRE1C):c.281C>A (p.Ser94Tyr) rs762266339 0.00003
NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His) rs143949881 0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000022.4(ADA):c.608A>C (p.Glu203Ala) rs200089190 0.00002
NM_000022.4(ADA):c.618G>T (p.Lys206Asn) rs750364735 0.00002
NM_000022.4(ADA):c.899T>G (p.Phe300Cys) rs371305751 0.00002
NM_000022.4(ADA):c.932C>T (p.Thr311Ile) rs773914135 0.00002
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val) rs767383120 0.00002
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796 0.00002
NM_000215.4(JAK3):c.2317G>A (p.Val773Ile) rs201531563 0.00002
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe) rs149229197 0.00002
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102 0.00002
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly) rs1252776122 0.00002
NM_001033855.3(DCLRE1C):c.632G>C (p.Gly211Ala) rs1056674146 0.00002
NM_000022.4(ADA):c.539T>C (p.Ile180Thr) rs1421855638 0.00001
NM_000022.4(ADA):c.574A>G (p.Ser192Gly) rs1246778030 0.00001
NM_000022.4(ADA):c.902A>G (p.Lys301Arg) rs1416109540 0.00001
NM_000022.4(ADA):c.935A>G (p.Lys312Arg) rs748974674 0.00001
NM_000022.4(ADA):c.938G>A (p.Arg313Gln) rs747500864 0.00001
NM_000022.4(ADA):c.941A>G (p.Asp314Gly) rs547569818 0.00001
NM_000022.4(ADA):c.984T>A (p.Asn328Lys) rs756329749 0.00001
NM_000206.3(IL2RG):c.739G>A (p.Gly247Arg) rs745952883 0.00001
NM_000206.3(IL2RG):c.924+9G>T rs1198550634 0.00001
NM_000215.4(JAK3):c.2323C>T (p.Arg775Cys) rs200624610 0.00001
NM_000215.4(JAK3):c.349C>T (p.Arg117Cys) rs201233697 0.00001
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr) rs1461508819 0.00001
NM_000448.3(RAG1):c.15C>G (p.Phe5Leu) rs745600099 0.00001
NM_000448.3(RAG1):c.2291G>A (p.Arg764His) rs768809293 0.00001
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp) rs768860215 0.00001
NM_000448.3(RAG1):c.29G>T (p.Gly10Val) rs977780517 0.00001
NM_000448.3(RAG1):c.82T>C (p.Trp28Arg) rs1274599533 0.00001
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser) rs757913323 0.00001
NM_000536.4(RAG2):c.25A>G (p.Ser9Gly) rs1851108332 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_000536.4(RAG2):c.53G>T (p.Gly18Val) rs1851106893 0.00001
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser) rs751073669 0.00001
NM_001033855.3(DCLRE1C):c.245T>C (p.Ile82Thr) rs748686886 0.00001
NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys) rs747849702 0.00001
NM_001033855.3(DCLRE1C):c.291T>C (p.Asp97=) rs1840574128 0.00001
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr) rs121908158 0.00001
NM_001033855.3(DCLRE1C):c.315G>C (p.Glu105Asp) rs1477434785 0.00001
NM_001033855.3(DCLRE1C):c.436A>G (p.Arg146Gly) rs756583993 0.00001
NM_001033855.3(DCLRE1C):c.475A>T (p.Ile159Phe) rs757929355 0.00001
NM_001033855.3(DCLRE1C):c.554G>A (p.Gly185Glu) rs1336396486 0.00001
NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp) rs766699328 0.00001
NM_001033855.3(DCLRE1C):c.614A>T (p.Asn205Ile) rs762532423 0.00001
NM_001033855.3(DCLRE1C):c.623C>T (p.Ala208Val) rs1326360954 0.00001
NM_002185.5(IL7R):c.212T>C (p.Phe71Ser) rs147423300 0.00001
NM_002185.5(IL7R):c.554G>T (p.Ser185Ile) rs1188286965 0.00001
NM_000022.4(ADA):c.1078+2T>C
NM_000022.4(ADA):c.569G>A (p.Gly190Glu)
NM_000022.4(ADA):c.572G>A (p.Ser191Asn) rs2065360796
NM_000022.4(ADA):c.575G>A (p.Ser192Asn) rs1057521456
NM_000022.4(ADA):c.596A>G (p.Gln199Arg)
NM_000022.4(ADA):c.902A>T (p.Lys301Met)
NM_000022.4(ADA):c.937C>T (p.Arg313Trp) rs79249850
NM_000022.4(ADA):c.940G>T (p.Asp314Tyr)
NM_000206.3(IL2RG):c.460C>T (p.Pro154Ser) rs1064793153
NM_000206.3(IL2RG):c.655T>C (p.Tyr219His) rs2147748284
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000215.4(JAK3):c.1796T>G (p.Val599Gly) rs1568403355
NM_000215.4(JAK3):c.1915-1G>A
NM_000448.3(RAG1):c.17C>T (p.Pro6Leu)
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys) rs193922463
NM_000448.3(RAG1):c.40G>A (p.Ala14Thr) rs765396585
NM_000448.3(RAG1):c.76T>C (p.Ser26Pro)
NM_000448.3(RAG1):c.86A>G (p.Lys29Arg)
NM_000536.4(RAG2):c.13A>T (p.Met5Leu) rs1851109238
NM_000536.4(RAG2):c.19A>G (p.Thr7Ala) rs1851108814
NM_000536.4(RAG2):c.1A>G (p.Met1Val) rs1564997814
NM_000536.4(RAG2):c.2T>C (p.Met1Thr) rs1554947410
NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)
NM_000536.4(RAG2):c.48G>T (p.Gln16His)
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly) rs1851105950
NM_000536.4(RAG2):c.77G>C (p.Gly26Ala) rs1851105838
NM_000536.4(RAG2):c.95G>T (p.Gly32Val)
NM_001033855.3(DCLRE1C):c.106A>G (p.Lys36Glu)
NM_001033855.3(DCLRE1C):c.131C>A (p.Ala44Asp)
NM_001033855.3(DCLRE1C):c.137C>T (p.Thr46Ile)
NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln) rs749686038
NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu) rs2131239353
NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg) rs1589136760
NM_001033855.3(DCLRE1C):c.242G>A (p.Arg81Gln)
NM_001033855.3(DCLRE1C):c.247-1G>C rs2131027668
NM_001033855.3(DCLRE1C):c.247A>G (p.Ile83Val) rs746658739
NM_001033855.3(DCLRE1C):c.24G>A (p.Met8Ile)
NM_001033855.3(DCLRE1C):c.25G>A (p.Ala9Thr) rs1842835241
NM_001033855.3(DCLRE1C):c.262G>A (p.Glu88Lys)
NM_001033855.3(DCLRE1C):c.276G>C (p.Gln92His) rs1840576379
NM_001033855.3(DCLRE1C):c.310G>A (p.Glu104Lys)
NM_001033855.3(DCLRE1C):c.319G>A (p.Val107Ile) rs772530008
NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)
NM_001033855.3(DCLRE1C):c.41T>C (p.Ile14Thr) rs752159513
NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser) rs752159513
NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp) rs41297018
NM_001033855.3(DCLRE1C):c.470A>C (p.Lys157Thr) rs1839624547
NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val) rs1279014555
NM_001033855.3(DCLRE1C):c.509A>G (p.Asp170Gly)
NM_001033855.3(DCLRE1C):c.50A>G (p.Asp17Gly) rs1842831150
NM_001033855.3(DCLRE1C):c.539A>T (p.Glu180Val) rs1839576830
NM_001033855.3(DCLRE1C):c.53G>A (p.Arg18His) rs1842830903
NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp) rs1468919857
NM_001033855.3(DCLRE1C):c.57C>A (p.Phe19Leu)
NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn) rs1839556682
NM_001033855.3(DCLRE1C):c.97C>T (p.His33Tyr) rs1842826599
NM_001369369.1(FOXN1):c.1021C>T (p.Arg341Cys) rs141965955
NM_001369369.1(FOXN1):c.1036T>C (p.Trp346Arg) rs2069997381
NM_001369369.1(FOXN1):c.1135+5G>C
NM_001369369.1(FOXN1):c.1850_1854del (p.Tyr617fs) rs2070095771
NM_001369369.1(FOXN1):c.699+1G>T rs1555609768
NM_001369369.1(FOXN1):c.928-2A>G rs2151497815
NM_002185.5(IL7R):c.135G>C (p.Gln45His) rs200464578
NM_002185.5(IL7R):c.205C>G (p.Leu69Val) rs1580851879
NM_002185.5(IL7R):c.41T>C (p.Leu14Ser) rs1759661333
NM_002185.5(IL7R):c.553A>T (p.Ser185Cys) rs1057519759
NM_002185.5(IL7R):c.82+14A>T

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