ClinVar Miner

List of variants reported as benign for T-B+ severe combined immunodeficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000206.2(IL2RG):c.325G>A (p.Glu109Lys) rs17875899
NM_000215.3(JAK3):c.108G>C (p.Gly36=) rs149701114
NM_000215.3(JAK3):c.1131C>T (p.His377=) rs55802448
NM_000215.3(JAK3):c.1442-5C>T rs3212750
NM_000215.3(JAK3):c.1548C>T (p.Ile516=) rs144203232
NM_000215.3(JAK3):c.1710G>A (p.Leu570=) rs3212755
NM_000215.3(JAK3):c.1995C>T (p.Pro665=) rs3212768
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.2259C>T (p.Ala753=) rs35458530
NM_000215.3(JAK3):c.2451C>T (p.Phe817=) rs201576913
NM_000215.3(JAK3):c.2625C>T (p.Leu875=) rs2230589
NM_000215.3(JAK3):c.297G>C (p.Leu99=) rs3212716
NM_000215.3(JAK3):c.3300C>T (p.Ser1100=) rs201073968
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000215.3(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000215.3(JAK3):c.631A>C (p.Arg211=) rs56269787
NM_000215.3(JAK3):c.696C>T (p.His232=) rs199902822
NM_000733.3(CD3E):c.103C>T (p.Pro35Ser) rs143949187
NM_000733.3(CD3E):c.216T>C (p.Asp72=) rs2231444
NM_000733.3(CD3E):c.323C>T (p.Ala108Val) rs35299792
NM_000733.3(CD3E):c.498G>A (p.Ala166=) rs78373007
NM_000733.3(CD3E):c.507C>T (p.Gly169=) rs2231447
NM_000733.3(CD3E):c.54C>T (p.Gly18=) rs1126924
NM_001193333.2(CORO1A):c.1065+9C>T rs117288362
NM_001193333.2(CORO1A):c.1097C>A (p.Pro366His) rs150857828
NM_001193333.2(CORO1A):c.1101C>T (p.Thr367=) rs139282852
NM_001193333.2(CORO1A):c.804C>T (p.Ser268=) rs149867063
NM_198053.2(CD247):c.177A>G (p.Ala59=) rs373031213
NM_198053.2(CD247):c.246G>A (p.Glu82=) rs34940956
NM_198053.2(CD247):c.249C>T (p.Tyr83=) rs33937946
NM_198053.2(CD247):c.300+8T>A rs56199250

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