ClinVar Miner

Variants in gene STK11 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.141dup (p.Lys48fs) rs2145405118
NM_000455.5(STK11):c.169dup (p.Glu57fs) rs121913319
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.290+1G>C rs1131690950
NM_000455.5(STK11):c.358G>T (p.Glu120Ter) rs775595174
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.5(STK11):c.543C>G (p.Asn181Lys) rs730881973
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.734+1G>T rs587782018
NM_000455.5(STK11):c.735-1G>A rs1057517830
NM_000455.5(STK11):c.863-1G>C rs863224448
NM_000455.5(STK11):c.898ATCCGGCAG[1] (p.300IRQ[1]) rs2145428787
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.5(STK11):c.911G>C (p.Arg304Pro) rs376280361
NM_000455.5(STK11):c.920+1G>A rs1131690920
NM_000455.5(STK11):c.921-1G>C rs398123406
NM_000455.5(STK11):c.923G>A (p.Trp308Ter) rs864622488

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