ClinVar Miner

List of variants in gene KLHL40 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_152393.4(KLHL40):c.1849T>C (p.Cys617Arg) rs123509 0.81037
NM_152393.4(KLHL40):c.1034A>G (p.Asn345Ser) rs6805421 0.59704
NM_152393.4(KLHL40):c.*182A>C rs3846062 0.55141
NM_152393.4(KLHL40):c.1755-200G>C rs61163642 0.49715
NM_152393.3(KLHL40):c.-393G>A rs3888652 0.27423
NM_152393.4(KLHL40):c.1608-115T>C rs339698 0.16836
NM_152393.4(KLHL40):c.1314-60C>T rs72865703 0.05538
NM_152393.4(KLHL40):c.1755-33T>C rs4533620 0.04973
NM_152393.4(KLHL40):c.1608-218A>G rs17030476 0.04066
NM_152393.4(KLHL40):c.324A>G (p.Ala108=) rs35033264 0.03361
NM_152393.4(KLHL40):c.1053C>T (p.His351=) rs61736693 0.03162
NM_152393.4(KLHL40):c.1607+57G>A rs148311297 0.01177
NM_152393.4(KLHL40):c.1251C>G (p.Val417=) rs9872183 0.01087
NM_152393.4(KLHL40):c.1422-23C>T rs141890952 0.01019
NM_152393.4(KLHL40):c.1152+206G>A rs79959247 0.00897
NM_152393.4(KLHL40):c.1754+285A>G rs140870522 0.00716
NM_152393.4(KLHL40):c.1104C>T (p.Phe368=) rs147863385 0.00642
NM_152393.4(KLHL40):c.1152+23C>T rs151152257 0.00528
NM_152393.3(KLHL40):c.-279G>A rs147745841 0.00446
NM_152393.4(KLHL40):c.1153-321G>A rs137976414 0.00424
NM_152393.4(KLHL40):c.1540G>A (p.Val514Met) rs146266900 0.00391
NM_152393.4(KLHL40):c.1313+7A>G rs185171192 0.00259
NM_152393.4(KLHL40):c.872A>C (p.Lys291Thr) rs74843241 0.00168
NM_152393.4(KLHL40):c.1801G>A (p.Ala601Thr) rs144659891 0.00100
NM_152393.4(KLHL40):c.600G>A (p.Arg200=) rs142392214 0.00090
NM_152393.4(KLHL40):c.1495G>A (p.Ala499Thr) rs148921329 0.00083
NM_152393.4(KLHL40):c.1314-12C>T rs201343745 0.00082
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser) rs138791086 0.00081
NM_152393.4(KLHL40):c.447C>T (p.Ala149=) rs138852341 0.00074
NM_152393.4(KLHL40):c.648G>T (p.Ala216=) rs200613578 0.00072
NM_152393.4(KLHL40):c.1293G>A (p.Ser431=) rs150475700 0.00061
NM_152393.4(KLHL40):c.238G>C (p.Asp80His) rs144461124 0.00038
NM_152393.4(KLHL40):c.968T>G (p.Ile323Ser) rs146161469 0.00038
NM_152393.4(KLHL40):c.1371G>A (p.Val457=) rs142716131 0.00036
NM_152393.4(KLHL40):c.1738C>A (p.Leu580Ile) rs149980411 0.00033
NM_152393.4(KLHL40):c.*12A>T rs200055551 0.00031
NM_152393.4(KLHL40):c.277G>C (p.Glu93Gln) rs202061995 0.00028
NM_152393.4(KLHL40):c.97C>T (p.Leu33Phe) rs138075372 0.00023
NM_152393.4(KLHL40):c.197C>G (p.Pro66Arg) rs200810691 0.00022
NM_152393.4(KLHL40):c.413G>C (p.Arg138Pro) rs142285083 0.00019
NM_152393.4(KLHL40):c.1709C>T (p.Thr570Met) rs139268932 0.00016
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu) rs202096553 0.00015
NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser) rs140056720 0.00011
NM_152393.4(KLHL40):c.-14C>G rs750666877 0.00009
NM_152393.4(KLHL40):c.1160A>G (p.His387Arg) rs201336129 0.00006
NM_152393.4(KLHL40):c.1275C>T (p.Gly425=) rs557898007 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_152393.4(KLHL40):c.182G>A (p.Arg61His) rs778276929 0.00006
NM_152393.4(KLHL40):c.1306G>A (p.Asp436Asn) rs372145157 0.00005
NM_152393.4(KLHL40):c.1754+16G>A rs771808122 0.00005
NM_152393.4(KLHL40):c.1835G>A (p.Arg612Gln) rs143516959 0.00004
NM_152393.4(KLHL40):c.511G>A (p.Gly171Arg) rs199513801 0.00004
NM_152393.4(KLHL40):c.1243T>C (p.Tyr415His) rs759757085 0.00003
NM_152393.4(KLHL40):c.468C>G (p.Ile156Met) rs1378856635 0.00003
NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter) rs397509420 0.00003
NM_152393.4(KLHL40):c.864C>T (p.Ser288=) rs374925596 0.00003
NM_152393.4(KLHL40):c.1789C>T (p.Leu597=) rs759554210 0.00002
NM_152393.4(KLHL40):c.1134G>A (p.Met378Ile) rs371753773 0.00001
NM_152393.4(KLHL40):c.1200G>A (p.Ser400=) rs759134022 0.00001
NM_152393.4(KLHL40):c.1381A>G (p.Met461Val) rs776547008 0.00001
NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys) rs758188096 0.00001
NM_152393.4(KLHL40):c.427C>T (p.Leu143Phe) rs780332509 0.00001
NM_152393.4(KLHL40):c.430G>C (p.Asp144His) rs374038735 0.00001
NM_152393.4(KLHL40):c.466A>C (p.Ile156Leu) rs752354484 0.00001
NM_152393.4(KLHL40):c.553G>C (p.Gly185Arg) rs921432594 0.00001
NM_152393.4(KLHL40):c.557T>A (p.Leu186His) rs777496833 0.00001
NM_152393.4(KLHL40):c.605C>T (p.Ala202Val) rs746474867 0.00001
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033 0.00001
NM_152393.4(KLHL40):c.1058G>A (p.Ser353Asn) rs1553680474
NM_152393.4(KLHL40):c.1274dup (p.Glu426fs) rs1085307627
NM_152393.4(KLHL40):c.1372C>G (p.Leu458Val) rs2471311587
NM_152393.4(KLHL40):c.1403G>A (p.Gly468Asp)
NM_152393.4(KLHL40):c.1607+102C>G rs339701
NM_152393.4(KLHL40):c.1607+9G>A rs757477975
NM_152393.4(KLHL40):c.1608-144G>A rs111756165
NM_152393.4(KLHL40):c.1684A>G (p.Ile562Val) rs750477837
NM_152393.4(KLHL40):c.1761C>G (p.Asn587Lys) rs34020089
NM_152393.4(KLHL40):c.1762GAG[2] (p.Glu590del) rs142843476
NM_152393.4(KLHL40):c.284C>A (p.Ala95Glu) rs1697262926
NM_152393.4(KLHL40):c.412C>T (p.Arg138Cys) rs752541165
NM_152393.4(KLHL40):c.433T>G (p.Cys145Gly)
NM_152393.4(KLHL40):c.937G>C (p.Gly313Arg) rs759912728

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