ClinVar Miner

List of variants in gene KL reported as uncertain significance for endocrine gland neoplasm

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_004795.4(KL):c.*1324A>G rs185425841 0.00220
NM_004795.4(KL):c.2626G>A (p.Asp876Asn) rs146235320 0.00193
NM_004795.4(KL):c.*1372T>A rs189084711 0.00144
NM_004795.4(KL):c.*380A>G rs191750865 0.00112
NM_004795.4(KL):c.15C>T (p.Ala5=) rs934153273 0.00098
NM_004795.4(KL):c.1188A>G (p.Gln396=) rs139912465 0.00053
NM_004795.4(KL):c.1419G>A (p.Arg473=) rs144181834 0.00052
NM_004795.4(KL):c.*1894T>G rs763468774 0.00048
NM_004795.4(KL):c.2571C>A (p.Asn857Lys) rs140707985 0.00048
NM_004795.4(KL):c.*793G>T rs568826729 0.00042
NM_004795.4(KL):c.1945C>T (p.Arg649Cys) rs199843173 0.00037
NM_004795.4(KL):c.*934T>A rs151258919 0.00036
NM_004795.4(KL):c.2298C>G (p.Gly766=) rs141751859 0.00024
NM_004795.4(KL):c.967G>A (p.Val323Ile) rs143344388 0.00019
NM_004795.4(KL):c.*466A>T rs770665581 0.00016
NM_004795.4(KL):c.1764G>T (p.Met588Ile) rs543489938 0.00014
NM_004795.4(KL):c.*1565T>C rs886050127 0.00013
NM_004795.4(KL):c.1105C>G (p.Leu369Val) rs142695155 0.00012
NM_004795.4(KL):c.1882C>T (p.Arg628Cys) rs200940225 0.00012
NM_004795.4(KL):c.911A>G (p.Asn304Ser) rs745640577 0.00012
NM_004795.4(KL):c.1858C>T (p.Arg620Cys) rs34292549 0.00011
NM_004795.4(KL):c.450C>A (p.Ser150=) rs764992732 0.00011
NM_004795.4(KL):c.476A>G (p.Asn159Ser) rs200218010 0.00011
NM_004795.4(KL):c.511C>A (p.Arg171Ser) rs200517420 0.00011
NM_004795.4(KL):c.*771C>T rs886050123 0.00009
NM_004795.4(KL):c.2862G>A (p.Pro954=) rs387907447 0.00009
NM_004795.4(KL):c.956C>T (p.Ser319Phe) rs138955761 0.00009
NM_004795.4(KL):c.2259G>A (p.Leu753=) rs200040161 0.00008
NM_004795.4(KL):c.*735G>A rs527723516 0.00007
NM_004795.4(KL):c.2069C>T (p.Pro690Leu) rs146275953 0.00007
NM_004795.4(KL):c.2251A>G (p.Arg751Gly) rs373177691 0.00007
NM_004795.4(KL):c.747C>T (p.Ala249=) rs563017227 0.00007
NM_004795.4(KL):c.*853T>C rs1426785432 0.00006
NM_004795.4(KL):c.*8C>T rs773877611 0.00006
NM_004795.4(KL):c.2557C>T (p.Arg853Cys) rs147992424 0.00006
NM_004795.4(KL):c.2904C>T (p.Thr968=) rs762438505 0.00005
NM_004795.4(KL):c.1860C>A (p.Arg620=) rs995644762 0.00004
NM_004795.4(KL):c.2057C>T (p.Thr686Met) rs141695559 0.00004
NM_004795.4(KL):c.2513G>C (p.Trp838Ser) rs199812311 0.00004
NM_004795.4(KL):c.398T>A (p.Phe133Tyr) rs749356037 0.00004
NM_004795.4(KL):c.560C>T (p.Pro187Leu) rs761695698 0.00004
NM_004795.4(KL):c.2995C>A (p.Leu999Ile) rs200295310 0.00003
NM_004795.4(KL):c.1780C>T (p.Arg594Cys) rs138511256 0.00002
NM_004795.4(KL):c.2572T>A (p.Trp858Arg) rs757603569 0.00002
NM_004795.4(KL):c.442C>T (p.Arg148Cys) rs868310562 0.00002
NM_004795.4(KL):c.497A>G (p.Asn166Ser) rs387907444 0.00002
NM_004795.4(KL):c.944A>G (p.Glu315Gly) rs759972130 0.00002
NM_004795.4(KL):c.*1486T>C rs1872386469 0.00001
NM_004795.4(KL):c.*1728A>G rs556620337 0.00001
NM_004795.4(KL):c.*174A>G rs886050121 0.00001
NM_004795.4(KL):c.*1750T>C rs886050129 0.00001
NM_004795.4(KL):c.*17A>G rs1308258377 0.00001
NM_004795.4(KL):c.*587G>C rs532213166 0.00001
NM_004795.4(KL):c.1331-3C>A rs748430461 0.00001
NM_004795.4(KL):c.1331-4G>A rs779243484 0.00001
NM_004795.4(KL):c.1374G>C (p.Trp458Cys) rs762838530 0.00001
NM_004795.4(KL):c.1557T>A (p.Phe519Leu) rs750440983 0.00001
NM_004795.4(KL):c.1626C>T (p.Thr542=) rs746870927 0.00001
NM_004795.4(KL):c.1811C>A (p.Pro604His) rs751229348 0.00001
NM_004795.4(KL):c.1848G>A (p.Leu616=) rs1872157300 0.00001
NM_004795.4(KL):c.2300C>G (p.Ser767Cys) rs1872192864 0.00001
NM_004795.4(KL):c.254A>G (p.Lys85Arg) rs1190809246 0.00001
NM_004795.4(KL):c.257G>A (p.Gly86Asp) rs1477759912 0.00001
NM_004795.4(KL):c.2684T>C (p.Ile895Thr) rs387907441 0.00001
NM_004795.4(KL):c.2779C>T (p.Leu927Phe) rs777126851 0.00001
NM_004795.4(KL):c.2874T>G (p.Thr958=) rs746291771 0.00001
NM_004795.4(KL):c.2959G>A (p.Ala987Thr) rs755999183 0.00001
NM_004795.4(KL):c.535C>T (p.Arg179Trp) rs746435085 0.00001
NM_004795.4(KL):c.*1007T>C rs886050124
NM_004795.4(KL):c.*1182T>C rs886050125
NM_004795.4(KL):c.*1509T>G rs886050126
NM_004795.4(KL):c.*1603C>A rs886050128
NM_004795.4(KL):c.*1870G>A rs1000445864
NM_004795.4(KL):c.*1950C>A rs886050130
NM_004795.4(KL):c.*202_*205del rs886050122
NM_004795.4(KL):c.*203G>T rs763269257
NM_004795.4(KL):c.*218G>A rs947191941
NM_004795.4(KL):c.*263A>G rs1872331863
NM_004795.4(KL):c.*26T>G rs886050120
NM_004795.4(KL):c.*810G>A rs535918609
NM_004795.4(KL):c.*93A>C rs1872326031
NM_004795.4(KL):c.1014C>A (p.Pro338=) rs547049483
NM_004795.4(KL):c.1462TTG[1] (p.Leu489del) rs777919048
NM_004795.4(KL):c.1599+14C>G rs886050119
NM_004795.4(KL):c.1718T>C (p.Val573Ala) rs1872148254
NM_004795.4(KL):c.1873G>A (p.Glu625Lys) rs150287359
NM_004795.4(KL):c.191G>A (p.Gly64Asp) rs749006234
NM_004795.4(KL):c.2226C>T (p.Ser742=) rs201355613
NM_004795.4(KL):c.2296G>C (p.Gly766Arg) rs114752661
NM_004795.4(KL):c.2702-1G>C rs1566510826
NM_004795.4(KL):c.426C>G (p.Leu142=) rs771447026
NM_004795.4(KL):c.4C>T (p.Pro2Ser) rs1425467064
NM_004795.4(KL):c.611A>G (p.Tyr204Cys) rs1870383915
NM_004795.4(KL):c.656A>T (p.Tyr219Phe) rs1870387959
NM_004795.4(KL):c.721dup (p.Tyr241fs) rs2138184030
NM_004795.4(KL):c.764C>T (p.Pro255Leu) rs1870396175
NM_004795.4(KL):c.875G>T (p.Gly292Val)
NM_004795.4(KL):c.974G>T (p.Gly325Val) rs1453773670

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