List of variants reported as pathogenic for T-B- severe combined immunodeficiency by OMIM

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

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HGVS	dbSNP	gnomAD frequency
NM_000022.4(ADA):c.226C>T (p.Arg76Trp)	rs121908736	0.00081
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)	rs35691292	0.00032
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)	rs114025668	0.00030
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00021
NM_000022.4(ADA):c.221G>T (p.Gly74Val)	rs199422328	0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His)	rs121908716	0.00009
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)	rs193922461	0.00009
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	rs121908739	0.00007
NM_000022.4(ADA):c.821C>T (p.Pro274Leu)	rs121908738	0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	rs104894419	0.00007
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)	rs121908737	0.00006
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)	rs121908723	0.00006
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp)	rs104894287	0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	rs121908721	0.00005
NM_000448.3(RAG1):c.256_257del (p.Lys86fs)	rs772962160	0.00005
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)	rs121918575	0.00004
NM_000022.4(ADA):c.478+1G>A	rs761242509	0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)	rs121908718	0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	rs36001797	0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)	rs121908156	0.00003
NM_001625.4(AK2):c.498+1G>A	rs777503956	0.00003
NM_001625.4(AK2):c.556C>T (p.Arg186Cys)	rs267606645	0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met)	rs121908728	0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)	rs199422327	0.00002
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)	rs104894289	0.00002
NM_000448.3(RAG1):c.1682G>A (p.Arg561His)	rs104894284	0.00002
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys)	rs28933392	0.00002
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)	rs104894286	0.00002
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)	rs121908717	0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)	rs121908735	0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	rs121908740	0.00001
NM_000448.3(RAG1):c.1187G>A (p.Arg396His)	rs104894291	0.00001
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)	rs104894285	0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)	rs121918572	0.00001
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln)	rs121918569	0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp)	rs121918570	0.00001
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)	rs121918571	0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)	rs121918573	0.00001
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr)	rs121908158	0.00001
NM_001625.4(AK2):c.1A>G (p.Met1Val)	rs137853206	0.00001
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter)	rs104894418	0.00001
NM_206937.2(LIG4):c.833G>A (p.Arg278His)	rs104894421	0.00001
NC_000020.11:g.44649961_44653216del
NG_007276.1:g.(19287_22502)_(23634_24320)del
NG_007276.1:g.(?_5047)_(19287_22502)del
NG_016269.1:g.(5157_17324)_(17451_20188)del
NM_000022.2(ADA):c.[290A>G;316C>G]
NM_000022.4(ADA):c.219-2A>G	rs387906267
NM_000022.4(ADA):c.302G>A (p.Arg101Gln)	rs121908714
NM_000022.4(ADA):c.33+1G>C	rs587776534
NM_000022.4(ADA):c.698C>T (p.Thr233Ile)	rs121908729
NM_000022.4(ADA):c.781-3_781delinsTGGAAGAGCAGATCTGG	rs2123516908
NM_000022.4(ADA):c.95+1G>A	rs778343059
NM_000448.2(RAG1):c.[1519C>T;2210G>A]
NM_000448.3(RAG1):c.1286A>G (p.Asp429Gly)	rs104894292
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs)	rs749256215
NM_000448.3(RAG1):c.1621del (p.Leu541fs)	rs1590703275
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter)	rs104894282
NM_000448.3(RAG1):c.2735A>G (p.Tyr912Cys)	rs104894290
NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter)	rs104894283
NM_000448.3(RAG1):c.2942A>C (p.Gln981Pro)	rs104894288
NM_000448.3(RAG1):c.519del (p.Glu174fs)	rs1241698978
NM_000448.3(RAG1):c.775del (p.Ser259fs)	rs878853031
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp)	rs121918568
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)	rs121917897
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp)	rs121917895
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn)	rs121918574
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	rs121917894
NM_000536.4(RAG2):c.817_819del (p.Ile273del)	rs2133313409
NM_000536.4(RAG2):c.854T>G (p.Met285Arg)	rs121917896
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	rs121908159
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)	rs886037924
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile)	rs886037925
NM_001033855.3(DCLRE1C):c.362+1G>T	rs1564446526
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)	rs121908157
NM_001033855.3(DCLRE1C):c.780+1del	rs786205074
NM_001033855.3(DCLRE1C):c.917+1G>A	rs1564418254
NM_001033855.3(DCLRE1C):c.972+1G>C	rs1564414523
NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)
NM_001625.4(AK2):c.118del (p.Cys40fs)	rs387906581
NM_001625.4(AK2):c.25G>T (p.Glu9Ter)	rs267606647
NM_001625.4(AK2):c.307C>T (p.Arg103Trp)	rs267606648
NM_001625.4(AK2):c.331-1G>A	rs1192619329
NM_001625.4(AK2):c.453del (p.Tyr152fs)	rs1553151177
NM_001625.4(AK2):c.494A>G (p.Asp165Gly)	rs267606643
NM_001625.4(AK2):c.523del (p.Arg175fs)	rs1553150995
NM_001625.4(AK2):c.636_*4953del (p.Ser213fs)
NM_001625.4(AK2):c.697A>T (p.Lys233Ter)	rs267606646
NM_002872.5(RAC2):c.101C>A (p.Pro34His)	rs1927393826
NM_002872.5(RAC2):c.167G>A (p.Trp56Ter)	rs2145824966
NM_002872.5(RAC2):c.169G>A (p.Asp57Asn)	rs74315507
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)	rs1555908409
NM_002872.5(RAC2):c.275A>C (p.Asn92Thr)	rs1927078072
NM_005356.5(LCK):c.1022T>C (p.Leu341Pro)	rs587777335
NM_005356.5(LCK):c.1129dup (p.Ser377fs)	rs1569967422
NM_005356.5(LCK):c.1318C>T (p.Pro440Ser)
NM_005356.5(LCK):c.1393T>C (p.Cys465Arg)
NM_005356.5(LCK):c.188-2A>G
NM_006904.7(PRKDC):c.10721C>T (p.Ala3574Val)	rs587777686
NM_006904.7(PRKDC):c.1777-710dup	rs546905091
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly)	rs118204451
NM_024782.3(NHEJ1):c.177+1_177+3delinsTT	rs886037606
NM_024782.3(NHEJ1):c.367T>C (p.Cys123Arg)	rs118204452
NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter)	rs118204453
NM_206937.2(LIG4):c.1295AAC[1] (p.Gln433del)	rs587776663
NM_206937.2(LIG4):c.1406G>A (p.Gly469Glu)	rs104894420

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