List of variants reported as pathogenic for Peutz-Jeghers syndrome by OMIM

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000455.5(STK11):c.169G>T (p.Glu57Ter)	rs137854584
NM_000455.5(STK11):c.197dup (p.Leu67fs)	rs397518441
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)	rs137853077
NM_000455.5(STK11):c.250A>T (p.Lys84Ter)	rs137853076
NM_000455.5(STK11):c.418del (p.Leu140fs)	rs397518440
NM_000455.5(STK11):c.465-1G>A	rs587776658
NM_000455.5(STK11):c.717G>C (p.Trp239Cys)	rs137853082
NM_000455.5(STK11):c.718_721del (p.Ser240fs)	rs587776657
NM_000455.5(STK11):c.738C>G (p.Tyr246Ter)	rs137853083
NM_000455.5(STK11):c.759C>A (p.Tyr253Ter)	rs137853075
NM_000455.5(STK11):c.834_835del (p.Cys278fs)	rs587776659
NM_000455.5(STK11):c.843del (p.Leu282fs)	rs587776656
NM_000455.5(STK11):c.891del (p.Arg297fs)	rs587776661
NM_000455.5(STK11):c.908_916del (p.Ile303_His306delinsAsn)	rs587776660
STK11, EX4-5DEL/EX6-7INV

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