ClinVar Miner

List of variants in gene PTF1A studied for autosomal recessive disease

Included ClinVar conditions (1198):
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_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_178161.3(PTF1A):c.*126_*129del rs533517653
NM_178161.3(PTF1A):c.*157GAT[1] rs149560393

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