ClinVar Miner

List of variants in gene CD247 reported as benign 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: 4
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HGVS dbSNP
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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