ClinVar Miner

List of variants in gene STK11 reported as likely pathogenic by Ambry Genetics

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.151_162del (p.Met51_Leu54del) rs1131690916
NM_000455.5(STK11):c.155_157del (p.Gly52del) rs1131690917
NM_000455.5(STK11):c.159_170del (p.Asp53_Gly56del) rs1131690953
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.5(STK11):c.290+2T>A
NM_000455.5(STK11):c.290+2_290+4del rs1568690546
NM_000455.5(STK11):c.375-7_375-6del rs2080765043
NM_000455.5(STK11):c.460C>G (p.His154Asp) rs878853988
NM_000455.5(STK11):c.464+1G>C
NM_000455.5(STK11):c.465-21_465del
NM_000455.5(STK11):c.465-2A>C rs1131690931
NM_000455.5(STK11):c.487G>C (p.Gly163Arg) rs730881972
NM_000455.5(STK11):c.536C>A (p.Pro179Gln)
NM_000455.5(STK11):c.541_543delinsGAA (p.Asn181Glu) rs1568707668
NM_000455.5(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000455.5(STK11):c.586G>C (p.Gly196Arg)
NM_000455.5(STK11):c.597+1G>T rs886039554
NM_000455.5(STK11):c.709G>C (p.Asp237His) rs878853247
NM_000455.5(STK11):c.711C>A (p.Asp237Glu) rs1057520379
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.5(STK11):c.725G>A (p.Gly242Glu) rs1568708382
NM_000455.5(STK11):c.734+2T>C rs1131690941
NM_000455.5(STK11):c.734_734+2dup
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)
NM_000455.5(STK11):c.854T>C (p.Leu285Pro) rs1555738724
NM_000455.5(STK11):c.863-2A>G rs1131690944
NM_000455.5(STK11):c.890_907del (p.Arg297_Gln302del) rs1131690935
NM_000455.5(STK11):c.914A>C (p.Gln305Pro)
NM_000455.5(STK11):c.920+2_920+31del

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