ClinVar Miner

List of variants reported as uncertain significance for T-B- severe combined immunodeficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870 0.00129
NM_005356.5(LCK):c.601G>A (p.Gly201Ser) rs11567841 0.00121
NM_006904.7(PRKDC):c.6901C>G (p.Gln2301Glu) rs376211703 0.00048
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769 0.00033
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) rs149012859 0.00019
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) rs147319483 0.00016
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly) rs368949953 0.00016
NM_006904.7(PRKDC):c.5572-4G>A rs367584015 0.00016
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_005356.5(LCK):c.1292C>T (p.Thr431Met) rs1801124 0.00010
NM_006904.7(PRKDC):c.5107A>G (p.Thr1703Ala) rs376188635 0.00009
NM_000022.4(ADA):c.831G>T (p.Glu277Asp) rs542229902 0.00002
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837 0.00002
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser) rs769187936 0.00002
NM_006904.7(PRKDC):c.1713C>T (p.Ser571=) rs373088662 0.00002
NM_006904.7(PRKDC):c.4138G>A (p.Ala1380Thr) rs56209904 0.00002
NM_000448.3(RAG1):c.549G>A (p.Met183Ile) rs750394886 0.00001
NM_006904.7(PRKDC):c.11561C>T (p.Ala3854Val) rs779943187 0.00001
NM_006904.7(PRKDC):c.7812G>A (p.Pro2604=) rs763035246 0.00001
NM_024782.3(NHEJ1):c.825+3G>A rs750458375 0.00001
NM_206937.2(LIG4):c.1242A>C (p.Val414=) rs150828164 0.00001
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.678+5G>A rs750695358
NM_006904.7(PRKDC):c.3236C>T (p.Ser1079Leu)
NM_206937.2(LIG4):c.2356G>A (p.Glu786Lys) rs200756045

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