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Mutation Direct

Effortless mutation search and display tool

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Gene: STK11 & Disease: Generalized Juvenile Polyposis/juvenile Polyposis Coli, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
142052	STK11	c.817G>A	p.Ala273Thr (p.A273T)	NM_000455.5 M	SNV	LB	2 +	8
182918	STK11	c.1148G>A	p.Arg383His (p.R383H)	NM_000455.5 M	SNV	VUS	3 +	3
142198	STK11	c.1012G>A	p.Val338Met (p.V338M)	NM_000455.5 M	SNV	LB	6 +	2
1049254	STK11	c.291-2_374+91del	--	NM_000455.5 M	Del	LP	1 +	0

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