ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP
ADA, 3.25-KB DEL, ALU-RELATED
ADA, 7-BP INS, IVS8AS
ADA, IVS2DS, G-A, +1
AK2, 331, G-A, -1
AK2, 498, G-A, +1
AK2, EX2 DEL
DCLRE1C, EX1-4DEL
DCLRE1C, EX5-6DEL
DCLRE1C, EX5-8DEL
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.33+1G>C rs587776534
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.478+1G>A rs761242509
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) rs121908729
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) rs886037925
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156
NM_001033855.3(DCLRE1C):c.362+1G>T rs1564446526
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.972+1G>C rs1564414523
NM_001625.4(AK2):c.118del (p.Cys40fs) rs387906581
NM_001625.4(AK2):c.1A>G (p.Met1Val) rs137853206
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.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.556C>T (p.Arg186Cys) rs267606645
NM_001625.4(AK2):c.697A>T (p.Lys233Ter) rs267606646
NM_005356.5(LCK):c.1022T>C (p.Leu341Pro) rs587777335
NM_006904.6(PRKDC):c.10721C>T (p.Ala3574Val) rs587777686
NM_006904.6(PRKDC):c.1776+1523dup rs546905091
NM_013411.4(AK2):c.636_*2601del
NM_022487.3(DCLRE1C):c.435del (p.Ala146Glnfs) rs786205074

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