ClinVar Miner

List of variants in gene AK2 reported as pathogenic 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: 13
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HGVS dbSNP
AK2, 331, G-A, -1
AK2, 498, G-A, +1
AK2, EX2 DEL
NM_001625.3(AK2):c.697A>T (p.Lys233Ter) rs267606646
NM_013411.4(AK2):c.118del (p.Cys40Valfs) rs387906581
NM_013411.4(AK2):c.1A>G (p.Met1Val) rs137853206
NM_013411.4(AK2):c.25G>T (p.Glu9Ter) rs267606647
NM_013411.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_013411.4(AK2):c.453del (p.Tyr152Thrfs) rs1553151177
NM_013411.4(AK2):c.494A>G (p.Asp165Gly) rs267606643
NM_013411.4(AK2):c.523del (p.Arg175Aspfs) rs1553150995
NM_013411.4(AK2):c.556C>T (p.Arg186Cys) rs267606645
NM_013411.4(AK2):c.636_*2601del

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