ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP
NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) rs587778695
NM_000455.4(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.290+1_290+7del rs1555735080
NM_000455.4(STK11):c.290+2_290+4del rs1568690546
NM_000455.4(STK11):c.291-15_292del
NM_000455.4(STK11):c.323A>G (p.Lys108Arg) rs1057520040
NM_000455.4(STK11):c.374+2T>C rs1555737480
NM_000455.4(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.4(STK11):c.530T>A (p.Ile177Asn) rs1057520041
NM_000455.4(STK11):c.541A>G (p.Asn181Asp) rs886037926
NM_000455.4(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.4(STK11):c.598-1G>A rs1555738319
NM_000455.4(STK11):c.644G>A (p.Gly215Asp) rs1057520038
NM_000455.4(STK11):c.709G>T (p.Asp237Tyr) rs878853247
NM_000455.4(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.4(STK11):c.725G>A (p.Gly242Glu) rs1568708382
NM_000455.4(STK11):c.851del (p.Asp284fs) rs1555738723
NM_000455.4(STK11):c.863-1G>A rs863224448
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.4(STK11):c.920+1G>A rs1131690920
NM_000455.4(STK11):c.920+1delG
NM_000455.4(STK11):c.923G>T (p.Trp308Leu) rs864622488
NM_000455.4(STK11):c.924G>C (p.Trp308Cys) rs1057520042
NM_000455.4(STK11):c.971C>T (p.Pro324Leu) rs367807476

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