ClinVar Miner

List of variants reported as pathogenic for Severe combined immunodeficiency disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838 0.00011
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000270.4(PNP):c.701G>C (p.Arg234Pro) rs104894451 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_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) rs193922641 0.00004
NM_000022.4(ADA):c.478+1G>A rs761242509 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_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 0.00002
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 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.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter) rs104894562 0.00001
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile) rs587778405 0.00001
NM_206937.2(LIG4):c.845A>T (p.His282Leu) rs777008519 0.00001
NC_000009.11:g.(?_214864)_(271730_286460)del
NC_000009.11:g.(?_214864)_(399260_404917)del
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.975+1G>A rs2065325898
NM_000022.4(ADA):c.996_997del (p.Ser333fs) rs2123508053
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000732.6(CD3D):c.107del (p.Asn36fs)
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
NM_001033855.3(DCLRE1C):c.161+2T>G
NM_001033855.3(DCLRE1C):c.1645C>T (p.Gln549Ter)
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val)
NM_001369369.1(FOXN1):c.1216_1247dup (p.Gly418fs)
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_015599.3(PGM3):c.1197_1201del (p.Arg399fs)
NM_015599.3(PGM3):c.162del (p.Lys54fs)
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_020458.4(TTC7A):c.2056_2059delinsTAGT (p.Glu686_Glu687delinsTer)
NM_024782.3(NHEJ1):c.11dup (p.Glu5fs) rs886037607
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.