ClinVar Miner

List of variants reported as likely pathogenic for Peutz-Jeghers syndrome

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile) rs587778695 0.00004
NM_000455.5(STK11):c.971C>T (p.Pro324Leu) rs367807476 0.00001
NC_000019.10:g.(?_1222975)_(1226647_?)del
NC_000019.9:g.(1222006_1223105)_(1226494_1227591)del
NC_000019.9:g.(?_1205797)_(1223172_1226452)del
NC_000019.9:g.(?_1219313)_(1219422_?)del
NM_000455.5(STK11):c.1033_1108+9dup
NM_000455.5(STK11):c.1036_1037del (p.Gly346fs)
NM_000455.5(STK11):c.141dup (p.Lys48fs) rs2145405118
NM_000455.5(STK11):c.169dup (p.Glu57fs) rs121913319
NM_000455.5(STK11):c.179dup (p.Tyr60Ter) rs876661012
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.290+1_290+7del rs1555735080
NM_000455.5(STK11):c.290+2_290+4del rs1568690546
NM_000455.5(STK11):c.291-10_922del
NM_000455.5(STK11):c.291-15_292del rs1599924500
NM_000455.5(STK11):c.323A>G (p.Lys108Arg) rs1057520040
NM_000455.5(STK11):c.326dup (p.Asn109fs)
NM_000455.5(STK11):c.329T>A (p.Val110Asp) rs2145420687
NM_000455.5(STK11):c.358G>T (p.Glu120Ter) rs775595174
NM_000455.5(STK11):c.374+2T>C rs1555737480
NM_000455.5(STK11):c.394T>C (p.Cys132Arg) rs2080765290
NM_000455.5(STK11):c.396C>G (p.Cys132Trp) rs730881969
NM_000455.5(STK11):c.481A>T (p.Ile161Phe) rs1131690938
NM_000455.5(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.5(STK11):c.530T>A (p.Ile177Asn) rs1057520041
NM_000455.5(STK11):c.541A>G (p.Asn181Asp) rs886037926
NM_000455.5(STK11):c.541_543delinsGAA (p.Asn181Glu) rs1568707668
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.5(STK11):c.543C>G (p.Asn181Lys) rs730881973
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.580G>C (p.Asp194His) rs121913315
NM_000455.5(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000455.5(STK11):c.589_597+6del rs2145424662
NM_000455.5(STK11):c.644G>A (p.Gly215Asp) rs1057520038
NM_000455.5(STK11):c.69del (p.Asp23fs) rs2080670725
NM_000455.5(STK11):c.709G>T (p.Asp237Tyr) rs878853247
NM_000455.5(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.5(STK11):c.717del (p.Trp239fs)
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.5(STK11):c.725G>A (p.Gly242Glu) rs1568708382
NM_000455.5(STK11):c.752G>A (p.Gly251Asp) rs730881977
NM_000455.5(STK11):c.752G>T (p.Gly251Val)
NM_000455.5(STK11):c.851del (p.Asp284fs) rs1555738723
NM_000455.5(STK11):c.854T>C (p.Leu285Pro) rs1555738724
NM_000455.5(STK11):c.854T>G (p.Leu285Arg) rs1555738724
NM_000455.5(STK11):c.863-1G>A rs863224448
NM_000455.5(STK11):c.863-1G>C rs863224448
NM_000455.5(STK11):c.869T>C (p.Leu290Pro) rs1057524439
NM_000455.5(STK11):c.910C>G (p.Arg304Gly)
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.5(STK11):c.920+1G>A rs1131690920
NM_000455.5(STK11):c.920+1G>C
NM_000455.5(STK11):c.920+2T>C
NM_000455.5(STK11):c.921-1G>C rs398123406
NM_000455.5(STK11):c.923G>A (p.Trp308Ter) rs864622488
NM_000455.5(STK11):c.923G>T (p.Trp308Leu) rs864622488
NM_000455.5(STK11):c.924G>C (p.Trp308Cys) rs1057520042
NM_000455.5(STK11):c.944del (p.Pro315fs) rs2145430705

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