ClinVar Miner

List of variants reported as pathogenic for Peutz-Jeghers syndrome by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.1010_1011del (p.Val337fs) rs2145430970
NM_000455.5(STK11):c.181_182del (p.Gly61fs)
NM_000455.5(STK11):c.256C>T (p.Arg86Ter) rs1057520039
NM_000455.5(STK11):c.297dup (p.Gln100fs)
NM_000455.5(STK11):c.298C>T (p.Gln100Ter)
NM_000455.5(STK11):c.334C>T (p.Gln112Ter) rs771049807
NM_000455.5(STK11):c.429dup (p.Pro144fs)
NM_000455.5(STK11):c.465-1G>A rs587776658
NM_000455.5(STK11):c.475C>T (p.Gln159Ter) rs2145424136
NM_000455.5(STK11):c.634_652del (p.Thr212fs)
NM_000455.5(STK11):c.640C>T (p.Gln214Ter) rs1131690923
NM_000455.5(STK11):c.658C>T (p.Gln220Ter) rs1131690940
NM_000455.5(STK11):c.735-1G>A rs1057517830
NM_000455.5(STK11):c.783C>G (p.Tyr261Ter)
NM_000455.5(STK11):c.790_793del (p.Phe264fs) rs121913320
NM_000455.5(STK11):c.863-1G>C rs863224448
NM_000455.5(STK11):c.876C>A (p.Tyr292Ter)
NM_000455.5(STK11):c.877G>T (p.Glu293Ter) rs398123405
NM_000455.5(STK11):c.920+2T>G
NM_000455.5(STK11):c.924G>A (p.Trp308Ter) rs1057520042
NM_000455.5(STK11):c.96del (p.Glu33fs)

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