ClinVar Miner

List of variants reported as uncertain significance for T-B- severe combined immunodeficiency by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000215.3(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.3(JAK3):c.3257C>T (p.Pro1086Leu) rs777493612
NM_006904.6(PRKDC):c.6952G>A (p.Ala2318Thr) rs779732085

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