ClinVar Miner

List of variants reported as likely pathogenic for Peutz-Jeghers syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000019.9:g.(1222006_1223105)_(1226494_1227591)del
NC_000019.9:g.(?_1205797)_(1223172_1226452)del
NM_000455.5(STK11):c.69del (p.Asp23fs) rs2080670725
NM_000455.5(STK11):c.725G>A (p.Gly242Glu) rs1568708382
NM_000455.5(STK11):c.851del (p.Asp284fs) rs1555738723

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