ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000019.10:g.(1207204_1218416)_(1219414_1220372)del
NM_000455.5(STK11):c.1090C>T (p.Gln364Ter)
NM_000455.5(STK11):c.468C>G (p.Tyr156Ter) rs786201349
NM_000455.5(STK11):c.536C>G (p.Pro179Arg)
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.734+1G>A rs587782018
NM_000455.5(STK11):c.842dup (p.Leu282fs) rs121913321
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090

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