ClinVar Miner

List of variants in gene combination LOC130062899, STK11 reported as uncertain significance for Peutz-Jeghers syndrome

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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys) rs759473833 0.00006
NM_000455.5(STK11):c.992G>A (p.Arg331Gln) rs371264852 0.00006
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn) rs368547224 0.00005
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr) rs369744528 0.00003
NM_000455.5(STK11):c.1063G>C (p.Asp355His) rs769403473 0.00003
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile) rs587778695 0.00003
NM_000455.5(STK11):c.1100C>T (p.Thr367Met) rs587782835 0.00003
NM_000455.5(STK11):c.1106C>G (p.Pro369Arg) rs1230130092 0.00003
NM_000455.5(STK11):c.1012G>A (p.Val338Met) rs587782302 0.00001
NM_000455.5(STK11):c.1013T>C (p.Val338Ala) rs1568712203 0.00001
NM_000455.5(STK11):c.1015C>G (p.Pro339Ala) rs769644352 0.00001
NM_000455.5(STK11):c.1016C>T (p.Pro339Leu) rs567896256 0.00001
NM_000455.5(STK11):c.1031T>C (p.Leu344Pro) rs864622118 0.00001
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser) rs375431906 0.00001
NM_000455.5(STK11):c.1040C>T (p.Ala347Val) rs587782058 0.00001
NM_000455.5(STK11):c.1051G>A (p.Glu351Lys) rs746460823 0.00001
NM_000455.5(STK11):c.1053_1058dup (p.Asp352_Leu353dup) rs1264780659 0.00001
NM_000455.5(STK11):c.1072G>A (p.Asp358Asn) rs587778696 0.00001
NM_000455.5(STK11):c.1102G>A (p.Val368Met) rs1311925225 0.00001
NM_000455.5(STK11):c.991C>T (p.Arg331Trp) rs876658594 0.00001
NM_000455.5(STK11):c.997C>T (p.Arg333Cys) rs746564972 0.00001
NM_000455.5(STK11):c.1001G>A (p.Ser334Asn) rs1342275430
NM_000455.5(STK11):c.1001G>C (p.Ser334Thr) rs1342275430
NM_000455.5(STK11):c.1002C>T (p.Ser334=) rs1057521267
NM_000455.5(STK11):c.1009G>A (p.Val337Met) rs2080796782
NM_000455.5(STK11):c.1010T>C (p.Val337Ala) rs1272426209
NM_000455.5(STK11):c.1015C>T (p.Pro339Ser) rs769644352
NM_000455.5(STK11):c.1016C>G (p.Pro339Arg) rs567896256
NM_000455.5(STK11):c.1018T>C (p.Tyr340His) rs2080796950
NM_000455.5(STK11):c.1024G>C (p.Glu342Gln) rs876658160
NM_000455.5(STK11):c.1024_1027del (p.Glu342fs) rs2145431039
NM_000455.5(STK11):c.1026G>T (p.Glu342Asp) rs1195673013
NM_000455.5(STK11):c.1028A>G (p.Asp343Gly) rs2145431072
NM_000455.5(STK11):c.1033C>T (p.His345Tyr) rs2145431124
NM_000455.5(STK11):c.1034A>G (p.His345Arg) rs2145431132
NM_000455.5(STK11):c.1037G>A (p.Gly346Asp) rs2145431154
NM_000455.5(STK11):c.1037_1042del (p.Gly346_Ala347del) rs1060499969
NM_000455.5(STK11):c.1040C>G (p.Ala347Gly) rs587782058
NM_000455.5(STK11):c.1040_1045del (p.Ala347_Asp348del) rs2080797182
NM_000455.5(STK11):c.1042G>A (p.Asp348Asn) rs2080797253
NM_000455.5(STK11):c.1042del (p.Asp348fs) rs2512949158
NM_000455.5(STK11):c.1044C>G (p.Asp348Glu) rs778274196
NM_000455.5(STK11):c.1045GAGGAC[1] (p.349ED[1]) rs762810203
NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3]) rs762810203
NM_000455.5(STK11):c.1046A>C (p.Glu349Ala) rs757815836
NM_000455.5(STK11):c.1048G>A (p.Asp350Asn) rs1060499955
NM_000455.5(STK11):c.1049A>G (p.Asp350Gly) rs876658522
NM_000455.5(STK11):c.1050C>G (p.Asp350Glu)
NM_000455.5(STK11):c.1054G>A (p.Asp352Asn) rs2145431245
NM_000455.5(STK11):c.1055A>T (p.Asp352Val) rs2145431252
NM_000455.5(STK11):c.1057_1074dup (p.Leu353_Asp358dup) rs2145431264
NM_000455.5(STK11):c.1061T>C (p.Phe354Ser) rs2080797498
NM_000455.5(STK11):c.1062_1073del (p.Glu357_Ile360del) rs1599929523
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn) rs769403473
NM_000455.5(STK11):c.1065C>G (p.Asp355Glu) rs577581156
NM_000455.5(STK11):c.1066A>C (p.Ile356Leu) rs772963844
NM_000455.5(STK11):c.1066A>G (p.Ile356Val) rs772963844
NM_000455.5(STK11):c.1067T>C (p.Ile356Thr) rs2145431316
NM_000455.5(STK11):c.1068C>G (p.Ile356Met) rs187744790
NM_000455.5(STK11):c.1069G>C (p.Glu357Gln) rs759473833
NM_000455.5(STK11):c.1070A>C (p.Glu357Ala) rs1424464160
NM_000455.5(STK11):c.1073A>G (p.Asp358Gly) rs752781994
NM_000455.5(STK11):c.1074T>A (p.Asp358Glu)
NM_000455.5(STK11):c.1075G>A (p.Asp359Asn) rs1060499967
NM_000455.5(STK11):c.1077C>G (p.Asp359Glu) rs1321578734
NM_000455.5(STK11):c.1078A>G (p.Ile360Val) rs1555739334
NM_000455.5(STK11):c.1079T>C (p.Ile360Thr) rs1568712477
NM_000455.5(STK11):c.1079_1087del (p.Ile360_Tyr362del)
NM_000455.5(STK11):c.1081A>G (p.Ile361Val) rs786202388
NM_000455.5(STK11):c.1082T>C (p.Ile361Thr) rs2080797878
NM_000455.5(STK11):c.1082T>G (p.Ile361Ser) rs2080797878
NM_000455.5(STK11):c.1083C>G (p.Ile361Met) rs2080797894
NM_000455.5(STK11):c.1084T>A (p.Tyr362Asn) rs2145431404
NM_000455.5(STK11):c.1087A>C (p.Thr363Pro) rs764458789
NM_000455.5(STK11):c.1087A>G (p.Thr363Ala) rs764458789
NM_000455.5(STK11):c.1088C>G (p.Thr363Ser) rs587778695
NM_000455.5(STK11):c.1091A>G (p.Gln364Arg) rs1599929567
NM_000455.5(STK11):c.1093G>A (p.Asp365Asn) rs1599929572
NM_000455.5(STK11):c.1096T>G (p.Phe366Val) rs767100677
NM_000455.5(STK11):c.1098C>A (p.Phe366Leu)
NM_000455.5(STK11):c.1099A>G (p.Thr367Ala) rs1599929579
NM_000455.5(STK11):c.1099_1108+73del rs2512949445
NM_000455.5(STK11):c.1100C>A (p.Thr367Lys) rs587782835
NM_000455.5(STK11):c.1102G>C (p.Val368Leu) rs1311925225
NM_000455.5(STK11):c.1102G>T (p.Val368Leu) rs1311925225
NM_000455.5(STK11):c.1105C>T (p.Pro369Ser) rs758887235
NM_000455.5(STK11):c.1106C>A (p.Pro369His) rs1230130092
NM_000455.5(STK11):c.1108+6T>C rs777428255
NM_000455.5(STK11):c.1108+6T>G rs777428255
NM_000455.5(STK11):c.1108G>A (p.Gly370Arg) rs747655835
NM_000455.5(STK11):c.1108G>C (p.Gly370Arg) rs747655835
NM_000455.5(STK11):c.983C>A (p.Thr328Asn) rs1405959130
NM_000455.5(STK11):c.983C>G (p.Thr328Ser) rs1405959130
NM_000455.5(STK11):c.983C>T (p.Thr328Ile) rs1405959130
NM_000455.5(STK11):c.986A>G (p.Lys329Arg) rs2080796505
NM_000455.5(STK11):c.988G>A (p.Asp330Asn) rs2145430883
NM_000455.5(STK11):c.989A>G (p.Asp330Gly) rs1034888250
NM_000455.5(STK11):c.990C>G (p.Asp330Glu) rs786201811
NM_000455.5(STK11):c.991C>G (p.Arg331Gly) rs876658594
NM_000455.5(STK11):c.992G>T (p.Arg331Leu) rs371264852
NM_000455.5(STK11):c.998G>A (p.Arg333His) rs587782267

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