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: 14
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HGVS dbSNP
AK2, EX2 DEL
NM_001625.4(AK2):c.118del (p.Cys40fs) rs387906581
NM_001625.4(AK2):c.1A>G (p.Met1Val) rs137853206
NM_001625.4(AK2):c.25G>T (p.Glu9Ter) rs267606647
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001625.4(AK2):c.330+5G>A rs1569646997
NM_001625.4(AK2):c.331-1G>A rs1192619329
NM_001625.4(AK2):c.453del (p.Tyr152fs) rs1553151177
NM_001625.4(AK2):c.494A>G (p.Asp165Gly) rs267606643
NM_001625.4(AK2):c.498+1G>A rs777503956
NM_001625.4(AK2):c.523del (p.Arg175fs) rs1553150995
NM_001625.4(AK2):c.556C>T (p.Arg186Cys) rs267606645
NM_001625.4(AK2):c.697A>T (p.Lys233Ter) rs267606646
NM_013411.4(AK2):c.636_*2601del

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