ClinVar Miner

List of variants in gene AK2 reported as 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: 4
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HGVS dbSNP
NM_001625.3(AK2):c.255G>A (p.Lys85=) rs41301072
NM_001625.3(AK2):c.386G>A (p.Ser129Asn) rs61750965
NM_001625.3(AK2):c.571C>G (p.His191Asp) rs80324279
NM_001625.3(AK2):c.625G>A (p.Ala209Thr) rs12116440

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