ClinVar Miner

List of variants in gene CD247 studied for T-B+ severe combined immunodeficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_198053.2(CD247):c.128G>T (p.Gly43Val) rs1557996000
NM_198053.2(CD247):c.15G>A (p.Ala5=) rs746701386
NM_198053.2(CD247):c.162+8C>A
NM_198053.2(CD247):c.177A>G (p.Ala59=) rs373031213
NM_198053.2(CD247):c.208C>T (p.Gln70Ter) rs74315290
NM_198053.2(CD247):c.208_209inv (p.Gln70Trp) rs193922739
NM_198053.2(CD247):c.208_210delinsTAT (p.Gln70Tyr) rs193922741
NM_198053.2(CD247):c.209A>T (p.Gln70Leu) rs193922740
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.250G>C (p.Asp84His)
NM_198053.2(CD247):c.263A>G (p.Lys88Arg)
NM_198053.2(CD247):c.275G>A (p.Arg92Gln)
NM_198053.2(CD247):c.27G>A (p.Ala9=) rs757294201
NM_198053.2(CD247):c.294A>G (p.Gly98=) rs1453205554
NM_198053.2(CD247):c.2T>C (p.Met1Thr) rs672601318
NM_198053.2(CD247):c.300+8T>A rs56199250
NM_198053.2(CD247):c.301C>T (p.Gln101Ter) rs55729925
NM_198053.2(CD247):c.394C>T (p.Arg132Cys)
NM_198053.2(CD247):c.39G>A (p.Gln13=) rs760945719
NM_198053.2(CD247):c.411G>C (p.Gly137=) rs148298128
NM_198053.2(CD247):c.427C>T (p.Gln143Ter) rs759213998
NM_198053.2(CD247):c.462C>T (p.Asp154=) rs181656780
NM_198053.2(CD247):c.491G>A (p.Arg164His) rs201937405
NM_198053.2(CD247):c.51dup (p.Ile18fs) rs1553238837

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