ClinVar Miner

List of variants studied for Peutz-Jeghers syndrome by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.*616T>C rs10415095 0.57700
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000455.5(STK11):c.*685C>A rs111773256 0.05323
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_000455.5(STK11):c.264C>A (p.Ile88=) rs56354945 0.02303
NM_000455.5(STK11):c.-1024C>T rs147615524 0.01666
NM_000455.5(STK11):c.-311C>T rs149756065 0.01265
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_000455.4(STK11):c.*365C>G rs535975204 0.00633
NM_000455.5(STK11):c.-127T>C rs532196225 0.00374
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000455.5(STK11):c.*613C>T rs543187681 0.00300
NM_000455.5(STK11):c.*629C>T rs368014506 0.00230
NM_000455.5(STK11):c.-577C>T rs560480063 0.00210
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000455.5(STK11):c.-893C>T rs867696290 0.00167
NM_000455.5(STK11):c.*460G>A rs558582150 0.00147
NM_000455.5(STK11):c.*317C>G rs550127419 0.00115
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000455.5(STK11):c.-580G>A rs548605358 0.00098
NM_000455.5(STK11):c.*16+10G>A rs587781180 0.00077
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000455.5(STK11):c.-274C>T rs372994361 0.00049
NM_000455.5(STK11):c.-590C>T rs1050439702 0.00048
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_000455.5(STK11):c.*631G>A rs565456677 0.00036
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000455.5(STK11):c.*202C>G rs886054220 0.00034
NM_000455.5(STK11):c.*347G>A rs950829868 0.00034
NM_000455.5(STK11):c.-775G>A rs868538577 0.00032
NM_000455.5(STK11):c.*353C>A rs866183878 0.00031
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000455.5(STK11):c.-137C>T rs527710714 0.00027
NM_000455.5(STK11):c.*668C>A rs1045495924 0.00025
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_000455.5(STK11):c.-806C>T rs1368940227 0.00021
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_000455.5(STK11):c.*678G>A rs532639857 0.00019
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000455.5(STK11):c.*332C>T rs1034644018 0.00016
NM_000455.5(STK11):c.-461G>A rs552610464 0.00016
NM_000455.5(STK11):c.-55C>T rs886054215 0.00015
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000455.5(STK11):c.-562G>C rs187649480 0.00009
NM_000455.5(STK11):c.*348C>G rs983491595 0.00007
NM_000455.5(STK11):c.-2G>T rs774072752 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000455.5(STK11):c.*201G>A rs528679025 0.00006
NM_000455.5(STK11):c.-447C>T rs867231569 0.00006
NM_000455.5(STK11):c.*113T>G rs760703775 0.00005
NM_000455.5(STK11):c.*413C>A rs533940465 0.00005
NM_000455.5(STK11):c.*603T>G rs1220161134 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00005
NM_000455.5(STK11):c.-520C>T rs886054208 0.00004
NM_000455.5(STK11):c.316C>T (p.Arg106Trp) rs587782115 0.00004
NM_000455.5(STK11):c.374+11C>T rs368923696 0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000455.5(STK11):c.*237C>A rs886054221 0.00003
NM_000455.5(STK11):c.-136C>T rs777480684 0.00003
NM_000455.5(STK11):c.-229C>G rs886054210 0.00003
NM_000455.5(STK11):c.-546G>A rs886054207 0.00003
NM_000455.5(STK11):c.-81A>G rs886054214 0.00003
NM_000455.5(STK11):c.374+9T>A rs762297795 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000455.5(STK11):c.615G>A (p.Ala205=) rs532889728 0.00003
NM_000455.5(STK11):c.*388A>G rs886054223 0.00002
NM_000455.5(STK11):c.-128G>T rs1340865672 0.00002
NM_000455.5(STK11):c.-835C>T rs1169622696 0.00002
NM_000455.5(STK11):c.*372C>T rs886054222 0.00001
NM_000455.5(STK11):c.*494T>A rs577030468 0.00001
NM_000455.5(STK11):c.-774C>T rs1388166210 0.00001
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser) rs587782876 0.00001
NM_000455.5(STK11):c.846C>G (p.Leu282=) rs777872290 0.00001
NM_001393918.1(CBARP):c.*837C>T rs995422130 0.00001
NM_000455.5(STK11):c.*121A>C rs886054219
NM_000455.5(STK11):c.*142G>T rs2080836128
NM_000455.5(STK11):c.*411T>C rs1463819473
NM_000455.5(STK11):c.*483_*484del rs545375742
NM_000455.5(STK11):c.*565G>A rs1027644340
NM_000455.5(STK11):c.*634G>A rs903030190
NM_000455.5(STK11):c.*701C>A rs1015269208
NM_000455.5(STK11):c.-1055C>T rs886054202
NM_000455.5(STK11):c.-106C>T rs886054213
NM_000455.5(STK11):c.-107dup rs927999961
NM_000455.5(STK11):c.-1097G>T rs944606544
NM_000455.5(STK11):c.-1098G>A rs886054201
NM_000455.5(STK11):c.-150G>A rs1453851790
NM_000455.5(STK11):c.-193C>G rs561818770
NM_000455.5(STK11):c.-216A>C rs886054211
NM_000455.5(STK11):c.-302G>A rs935371253
NM_000455.5(STK11):c.-333G>T rs1208293548
NM_000455.5(STK11):c.-387C>T rs886054209
NM_000455.5(STK11):c.-388C>T rs2080666270
NM_000455.5(STK11):c.-430C>T rs115594813
NM_000455.5(STK11):c.-474G>A rs866050909
NM_000455.5(STK11):c.-587G>C rs886054206
NM_000455.5(STK11):c.-635del rs886054205
NM_000455.5(STK11):c.-723G>T rs886054204
NM_000455.5(STK11):c.-783G>A rs2080662705
NM_000455.5(STK11):c.-925C>T rs886054203
NM_000455.5(STK11):c.1018T>C (p.Tyr340His) rs2080796950
NM_000455.5(STK11):c.312G>T (p.Arg104Ser) rs780749732
NM_000455.5(STK11):c.399G>C (p.Val133=) rs757021648
NM_000455.5(STK11):c.464+14G>A rs587782421
NM_000455.5(STK11):c.597+21dup rs534445875
NM_000455.5(STK11):c.606C>G (p.His202Gln) rs2080775908
NM_000455.5(STK11):c.617C>T (p.Ala206Val) rs764244639
NM_000455.5(STK11):c.618G>C (p.Ala206=) rs370976710
NM_000455.5(STK11):c.668A>G (p.Glu223Gly) rs2080776621
NM_000455.5(STK11):c.69C>T (p.Asp23=) rs1599914867
NM_000455.5(STK11):c.746C>T (p.Thr249Ile) rs886054218
NM_000455.5(STK11):c.791T>A (p.Phe264Tyr) rs876658978
NM_000455.5(STK11):c.8T>G (p.Val3Gly) rs886054216
NM_000455.5(STK11):c.942T>C (p.Pro314=) rs1256260277
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212
NM_001393918.1(CBARP):c.*757_*765del rs142990629
NM_001393918.1(CBARP):c.*846G>A rs886054225
NM_001393918.1(CBARP):c.*861C>T rs2080843947

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