ClinVar Miner

List of variants in gene STK11 reported as uncertain significance for Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp) rs587780715 0.00005
NM_000455.5(STK11):c.588C>T (p.Gly196=) rs769309428 0.00003
NM_000455.5(STK11):c.911G>A (p.Arg304Gln) rs376280361 0.00003
NM_000455.5(STK11):c.608C>T (p.Pro203Leu) rs587782379 0.00002
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg) rs587781633 0.00001
NM_000455.5(STK11):c.299A>G (p.Gln100Arg) rs1060499957 0.00001
NM_000455.5(STK11):c.431C>T (p.Pro144Leu) rs1006375117 0.00001
NM_000455.5(STK11):c.434A>G (p.Glu145Gly) rs369764220 0.00001
NM_000455.5(STK11):c.448G>A (p.Val150Met) rs1225872771 0.00001
NM_000455.5(STK11):c.61G>A (p.Gly21Ser) rs1064793751 0.00001
NM_000455.5(STK11):c.833G>A (p.Cys278Tyr) rs2080782575 0.00001
NM_000455.5(STK11):c.947C>G (p.Ala316Gly) rs751709130 0.00001
NM_000455.5(STK11):c.94A>G (p.Thr32Ala) rs755210880 0.00001
NM_000455.5(STK11):c.1123G>A (p.Glu375Lys) rs2080821619
NM_000455.5(STK11):c.124C>T (p.Arg42Trp) rs765367492
NM_000455.5(STK11):c.1274G>T (p.Arg425Leu) rs730881992
NM_000455.5(STK11):c.14A>G (p.Asp5Gly) rs1178249537
NM_000455.5(STK11):c.248A>G (p.Lys83Arg) rs374006397
NM_000455.5(STK11):c.374T>C (p.Met125Thr)
NM_000455.5(STK11):c.54G>A (p.Met18Ile) rs755436889
NM_000455.5(STK11):c.712A>G (p.Ile238Val) rs2080777009
NM_000455.5(STK11):c.749C>T (p.Thr250Met) rs876661238
NM_000455.5(STK11):c.79C>T (p.His27Tyr)

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