ClinVar Miner

List of variants studied for Peutz-Jeghers syndrome by Database of Curated Mutations (DoCM)

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Total variants: 10
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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
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.323A>G (p.Lys108Arg) rs1057520040
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.644G>A (p.Gly215Asp) rs1057520038
NM_000455.5(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.5(STK11):c.924G>C (p.Trp308Cys) rs1057520042

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