ClinVar Miner

List of variants in gene PTF1A reported as benign for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NC_000010.11:g.23177805G>A rs7916519 0.48352
NC_000010.11:g.23163713A>G rs10741021 0.23437
NC_000010.11:g.23189850T>G rs4748844 0.08608
NM_178161.3(PTF1A):c.*15G>A rs10828415 0.08608
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NC_000010.11:g.23167584A>C rs16923098 0.00379
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val) rs370163562 0.00109
NC_000010.11:g.23187502G>A rs187391034 0.00038

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