ClinVar Miner

List of variants in gene combination AK2, LOC129930068 reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001625.4(AK2):c.1A>G (p.Met1Val) rs137853206 0.00001
NM_001625.4(AK2):c.25G>T (p.Glu9Ter) rs267606647
NM_001625.4(AK2):c.84dup (p.Gly29fs) rs1640610158

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