ClinVar Miner

List of variants reported as uncertain significance for T-B- severe combined immunodeficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870 0.00129
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658 0.00071
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser) rs3093765 0.00048
NM_001625.4(AK2):c.247A>G (p.Ile83Val) rs184683619 0.00047
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817 0.00029
NM_006904.7(PRKDC):c.6206G>A (p.Arg2069Gln) rs201879882 0.00024
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr) rs151077440 0.00021
NM_000022.4(ADA):c.758G>A (p.Arg253Gln) rs148994526 0.00019
NM_000448.3(RAG1):c.1864G>A (p.Ala622Thr) rs148380512 0.00019
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097 0.00015
NM_001625.4(AK2):c.631G>A (p.Asp211Asn) rs143825456 0.00015
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_206937.2(LIG4):c.1705A>G (p.Met569Val) rs774699419 0.00011
NM_000448.3(RAG1):c.2753G>A (p.Arg918His) rs368073575 0.00009
NM_000448.3(RAG1):c.101G>A (p.Arg34Gln) rs377307948 0.00006
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile) rs200758244 0.00006
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914 0.00006
NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val) rs777250271 0.00006
NM_006904.7(PRKDC):c.4580G>A (p.Arg1527His) rs768314532 0.00005
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp) rs755708095 0.00005
NM_206937.2(LIG4):c.381G>C (p.Met127Ile) rs61752350 0.00005
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser) rs202189218 0.00004
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala) rs756366535 0.00004
NM_000022.4(ADA):c.992A>C (p.Lys331Thr) rs372131830 0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_006904.7(PRKDC):c.10796C>G (p.Thr3599Ser) rs147753989 0.00002
NM_000022.4(ADA):c.313C>T (p.His105Tyr) rs201522960 0.00001
NM_000022.4(ADA):c.349T>C (p.Trp117Arg) rs771162170 0.00001
NM_000536.4(RAG2):c.733C>T (p.Pro245Ser) rs918016464 0.00001
NM_006904.7(PRKDC):c.8357A>G (p.Lys2786Arg) rs1261223784 0.00001
NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met) rs756563868 0.00001
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr) rs373262036 0.00001
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr) rs199854013 0.00001
NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr) rs1245287257
NM_000448.3(RAG1):c.432G>T (p.Lys144Asn) rs144430517
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly) rs1851105950
NM_006904.7(PRKDC):c.9936_9937del (p.Ser3313fs) rs1589705455
NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val) rs1878367870

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