ClinVar Miner

List of variants in gene NEB reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.1471-1G>A rs1553605995
NM_001164508.2(NEB):c.18597del (p.Tyr6200fs) rs797045735
NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001164508.2(NEB):c.3774+1G>A rs111293259

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