ClinVar Miner

List of variants reported as likely pathogenic 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: 68
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573 0.00001
NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp) rs1564995660 0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) rs1317003987 0.00001
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter) rs141698985 0.00001
NM_000022.4(ADA):c.1078+2T>A rs1555843178
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter) rs1419063255
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.363-2A>G rs2145318314
NM_000022.4(ADA):c.511A>T (p.Lys171Ter) rs2065361731
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter) rs748810619
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.606+1G>T
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.763G>T (p.Glu255Ter) rs2123517896
NM_000022.4(ADA):c.890C>T (p.Pro297Leu) rs121908718
NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter) rs1556331272
NM_000206.3(IL2RG):c.116-2A>G rs2147751146
NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter) rs2092262517
NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
NM_000206.3(IL2RG):c.184T>A (p.Cys62Ser) rs1602289649
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter) rs2147750927
NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr) rs1064794027
NM_000206.3(IL2RG):c.924G>A (p.Ser308=) rs2092255386
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)
NM_000215.4(JAK3):c.2680+89G>A
NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter) rs104894283
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met) rs1564995662
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) rs1564995627
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) rs1590713653
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.3G>A (p.Met1Ile)
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter) rs2131108640
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) rs1839765652
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001369369.1(FOXN1):c.1010del (p.Gly337fs) rs2151497970
NM_001369369.1(FOXN1):c.1049C>T (p.Pro350Leu)
NM_001369369.1(FOXN1):c.1168del (p.Glu390fs)
NM_001369369.1(FOXN1):c.1275_1278del (p.Leu426fs)
NM_001369369.1(FOXN1):c.1296del (p.Ile433fs)
NM_001369369.1(FOXN1):c.1315del (p.Leu439fs) rs1064796227
NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs) rs2151499024
NM_001369369.1(FOXN1):c.1367T>A (p.Leu456Ter)
NM_001369369.1(FOXN1):c.1392_1401del (p.Pro465fs) rs1597567985
NM_001369369.1(FOXN1):c.1418del (p.Pro473fs) rs1597568117
NM_001369369.1(FOXN1):c.1579_1580del (p.Gly526_Thr527insTer)
NM_001369369.1(FOXN1):c.1585del (p.Leu529fs) rs1161194345
NM_001369369.1(FOXN1):c.880G>C (p.Val294Leu) rs1406320425
NM_001369369.1(FOXN1):c.907del (p.Glu303fs) rs1064796115
NM_001369369.1(FOXN1):c.962A>G (p.His321Arg) rs1057524466
NM_001369369.1(FOXN1):c.974T>C (p.Leu325Pro) rs1597566470
NM_002185.5(IL7R):c.235G>T (p.Glu79Ter) rs1354581284
NM_002185.5(IL7R):c.355A>T (p.Lys119Ter) rs1448018291
NM_002185.5(IL7R):c.394C>T (p.Pro132Ser) rs104893894
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter) rs766555082

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