ClinVar Miner

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

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_000455.4(STK11):c.151_162del (p.Met51_Leu54del) rs1131690916
NM_000455.4(STK11):c.155_157del (p.Gly52del) rs1131690917
NM_000455.4(STK11):c.159_170del (p.Asp53_Gly56del) rs1131690953
NM_000455.4(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.465-2A>C rs1131690931
NM_000455.4(STK11):c.487G>C (p.Gly163Arg) rs730881972
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000455.4(STK11):c.597+1G>T rs886039554
NM_000455.4(STK11):c.709G>C (p.Asp237His) rs878853247
NM_000455.4(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.4(STK11):c.734+2T>C rs1131690941
NM_000455.4(STK11):c.863-2A>G rs1131690944
NM_000455.4(STK11):c.890_907del (p.Arg297_Gln302del) rs1131690935
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090

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