ClinVar Miner

List of variants in gene STK11 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_000455.4(STK11):c.169dupG (p.Glu57Glyfs) rs121913319
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.877G>T (p.Glu293Ter) rs398123405
NM_000455.4(STK11):c.921-1G>T rs398123406
NM_000455.4(STK11):c.921-2A>T rs727504172
NM_000455.4(STK11):c.988dup (p.Asp330Glyfs) rs786200991

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