ClinVar Miner

List of variants in gene AK2 reported as likely benign for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001625.4(AK2):c.220-5del rs752085550
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419
NM_001625.4(AK2):c.504C>T (p.Thr168=) rs61750964
NM_001625.4(AK2):c.603C>T (p.Tyr201=) rs138151595
NM_001625.4(AK2):c.630C>T (p.Ile210=) rs746330303

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