ClinVar Miner

List of variants studied for Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00092
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys) rs759473833 0.00006
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp) rs587780715 0.00005
NM_000455.5(STK11):c.42G>A (p.Glu14=) rs758769888 0.00004
NM_000455.5(STK11):c.612C>T (p.Phe204=) rs774100153 0.00004
NM_000455.5(STK11):c.588C>T (p.Gly196=) rs769309428 0.00003
NM_000455.5(STK11):c.651G>A (p.Pro217=) rs368348370 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.972G>A (p.Pro324=) rs553474397 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.726G>A (p.Gly242=) rs776823114 0.00001
NM_000455.5(STK11):c.833G>A (p.Cys278Tyr) rs2080782575 0.00001
NM_000455.5(STK11):c.846C>G (p.Leu282=) rs777872290 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
NC_000019.9:g.(?_1218416)_(1222005_?)del
NC_000019.9:g.1206913_1219412del
NC_000019.9:g.1206913_1226646del
NM_000455.5(STK11):c.1108+1_1108+5dup
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.147C>G (p.Tyr49Ter)
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.292_464+1del
NM_000455.5(STK11):c.374T>C (p.Met125Thr)
NM_000455.5(STK11):c.388dup (p.Glu130fs)
NM_000455.5(STK11):c.487G>C (p.Gly163Arg) rs730881972
NM_000455.5(STK11):c.54G>A (p.Met18Ile) rs755436889
NM_000455.5(STK11):c.615G>T (p.Ala205=)
NM_000455.5(STK11):c.712A>G (p.Ile238Val) rs2080777009
NM_000455.5(STK11):c.726G>T (p.Gly242=) rs776823114
NM_000455.5(STK11):c.749C>T (p.Thr250Met) rs876661238
NM_000455.5(STK11):c.79C>T (p.His27Tyr)
NM_000455.5(STK11):c.810del (p.Ser271fs)
NM_000455.5(STK11):c.922T>G (p.Trp308Gly)
NM_000455.5(STK11):c.923G>T (p.Trp308Leu) rs864622488

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