ClinVar Miner

List of variants in gene KLHL41 studied for childhood-onset nemaline myopathy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr) rs28763868 0.08132
NM_006063.3(KLHL41):c.1251A>G (p.Val417=) rs79580851 0.01239
NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe) rs28730867 0.00983
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017 0.00692
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849 0.00597
NM_006063.3(KLHL41):c.15G>A (p.Arg5=) rs144048872 0.00495
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=) rs76875207 0.00160
NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr) rs116809051 0.00138
NM_006063.3(KLHL41):c.684A>C (p.Thr228=) rs141395388 0.00123
NM_006063.3(KLHL41):c.398G>A (p.Gly133Asp) rs147294651 0.00105
NM_006063.3(KLHL41):c.652G>A (p.Val218Met) rs147527225 0.00096
NM_006063.3(KLHL41):c.913C>T (p.Leu305Phe) rs149971244 0.00078
NM_006063.3(KLHL41):c.1186G>T (p.Val396Leu) rs147650614 0.00045
NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe) rs373391330 0.00042
NM_006063.3(KLHL41):c.1569T>C (p.Asp523=) rs373954289 0.00034
NM_006063.3(KLHL41):c.783C>T (p.Gly261=) rs141574405 0.00034
NM_006063.3(KLHL41):c.1476C>G (p.Val492=) rs138411167 0.00029
NM_006063.3(KLHL41):c.1110+19A>G rs369566057 0.00024
NM_006063.3(KLHL41):c.1756C>T (p.Arg586Cys) rs28763871 0.00023
NM_006063.3(KLHL41):c.1578C>T (p.Thr526=) rs562170123 0.00022
NM_006063.3(KLHL41):c.206C>T (p.Ala69Val) rs151212497 0.00021
NM_006063.3(KLHL41):c.291T>C (p.Asp97=) rs537913427 0.00020
NM_006063.3(KLHL41):c.777C>T (p.Phe259=) rs562502714 0.00017
NM_006063.3(KLHL41):c.832G>A (p.Val278Met) rs150233736 0.00017
NM_006063.3(KLHL41):c.642C>G (p.Asn214Lys) rs372183592 0.00014
NM_006063.3(KLHL41):c.1711T>C (p.Tyr571His) rs758684130 0.00009
NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly) rs145810515 0.00006
NM_006063.3(KLHL41):c.1757G>A (p.Arg586His) rs762482219 0.00006
NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys) rs547547946 0.00006
NM_006063.3(KLHL41):c.207G>A (p.Ala69=) rs373592757 0.00006
NM_006063.3(KLHL41):c.798T>C (p.Pro266=) rs375564888 0.00005
NM_006063.3(KLHL41):c.1482A>T (p.Lys494Asn) rs778531652 0.00004
NM_006063.3(KLHL41):c.208A>G (p.Lys70Glu) rs766504219 0.00004
NM_006063.3(KLHL41):c.366C>T (p.Cys122=) rs199941904 0.00004
NM_006063.3(KLHL41):c.408A>G (p.Leu136=) rs916381609 0.00004
NM_006063.3(KLHL41):c.833T>C (p.Val278Ala) rs751923233 0.00004
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His) rs150768955 0.00003
NM_006063.3(KLHL41):c.1448T>C (p.Ile483Thr) rs978825115 0.00003
NM_006063.3(KLHL41):c.1454G>A (p.Arg485His) rs760007708 0.00003
NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg) rs778003504 0.00003
NM_006063.3(KLHL41):c.443C>T (p.Pro148Leu) rs772160259 0.00003
NM_006063.3(KLHL41):c.535C>T (p.Leu179=) rs779057492 0.00003
NM_006063.3(KLHL41):c.1110+20T>C rs777968201 0.00002
NM_006063.3(KLHL41):c.1306A>G (p.Lys436Glu) rs1185067965 0.00002
NM_006063.3(KLHL41):c.1392G>T (p.Arg464Ser) rs745775130 0.00002
NM_006063.3(KLHL41):c.1674A>G (p.Lys558=) rs777120116 0.00002
NM_006063.3(KLHL41):c.1759T>C (p.Tyr587His) rs770685517 0.00002
NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln) rs576773055 0.00002
NM_006063.3(KLHL41):c.757A>G (p.Lys253Glu) rs773708864 0.00002
NM_006063.3(KLHL41):c.1027C>T (p.Gln343Ter) rs779140230 0.00001
NM_006063.3(KLHL41):c.102T>C (p.Asp34=) rs748591565 0.00001
NM_006063.3(KLHL41):c.1075A>G (p.Asn359Asp) rs143883202 0.00001
NM_006063.3(KLHL41):c.1111-14T>C rs769561346 0.00001
NM_006063.3(KLHL41):c.1147C>A (p.Pro383Thr) rs760973350 0.00001
NM_006063.3(KLHL41):c.1174G>A (p.Gly392Ser) rs374204816 0.00001
NM_006063.3(KLHL41):c.1268+20C>A rs1245384229 0.00001
NM_006063.3(KLHL41):c.1269-12G>A rs573355443 0.00001
NM_006063.3(KLHL41):c.1284C>T (p.Asn428=) rs373688807 0.00001
NM_006063.3(KLHL41):c.1314T>C (p.Tyr438=) rs1463984577 0.00001
NM_006063.3(KLHL41):c.1346T>C (p.Ile449Thr) rs1410868438 0.00001
NM_006063.3(KLHL41):c.1390A>C (p.Arg464=) rs778940575 0.00001
NM_006063.3(KLHL41):c.1460T>C (p.Met487Thr) rs753046029 0.00001
NM_006063.3(KLHL41):c.14G>A (p.Arg5Gln) rs747822404 0.00001
NM_006063.3(KLHL41):c.1512T>G (p.Thr504=) rs1684148189 0.00001
NM_006063.3(KLHL41):c.1516G>T (p.Asp506Tyr) rs746755443 0.00001
NM_006063.3(KLHL41):c.1614C>A (p.Val538=) rs1446150104 0.00001
NM_006063.3(KLHL41):c.1620G>A (p.Leu540=) rs1157611870 0.00001
NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp) rs1237694295 0.00001
NM_006063.3(KLHL41):c.1709+20A>G rs762480893 0.00001
NM_006063.3(KLHL41):c.1745T>C (p.Leu582Ser) rs940060854 0.00001
NM_006063.3(KLHL41):c.176G>A (p.Arg59His) rs759521852 0.00001
NM_006063.3(KLHL41):c.1794A>C (p.Leu598Phe) rs893355163 0.00001
NM_006063.3(KLHL41):c.193G>A (p.Glu65Lys) rs772174002 0.00001
NM_006063.3(KLHL41):c.209A>T (p.Lys70Ile) rs751688698 0.00001
NM_006063.3(KLHL41):c.300C>T (p.Asp100=) rs768530305 0.00001
NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala) rs553091070 0.00001
NM_006063.3(KLHL41):c.530A>C (p.Gln177Pro) rs1053056040 0.00001
NM_006063.3(KLHL41):c.581A>C (p.Glu194Ala) rs201591782 0.00001
NM_006063.3(KLHL41):c.667C>T (p.Arg223Cys) rs754460870 0.00001
NM_006063.3(KLHL41):c.751A>G (p.Lys251Glu) rs777151398 0.00001
NM_006063.3(KLHL41):c.778G>A (p.Ala260Thr) rs766071573 0.00001
NM_006063.3(KLHL41):c.795A>G (p.Glu265=) rs1559129545 0.00001
NM_006063.3(KLHL41):c.812C>T (p.Ala271Val) rs1304097331 0.00001
NM_006063.3(KLHL41):c.813G>A (p.Ala271=) rs747222396 0.00001
NM_006063.3(KLHL41):c.840T>A (p.Gly280=) rs755378546 0.00001
NM_006063.3(KLHL41):c.843T>G (p.Asp281Glu) rs773869984 0.00001
NM_006063.3(KLHL41):c.883A>G (p.Ile295Val) rs774846657 0.00001
NM_006063.3(KLHL41):c.959C>T (p.Thr320Met) rs781536513 0.00001
NM_006063.3(KLHL41):c.994C>A (p.Gln332Lys) rs756595110 0.00001
NC_000002.11:g.(?_170366289)_(170382206_?)dup
NC_000002.12:g.(?_169509769)_(169525706_?)dup
NM_006063.3(KLHL41):c.1017C>T (p.Ser339=) rs1023118686
NM_006063.3(KLHL41):c.101A>G (p.Asp34Gly) rs2105307804
NM_006063.3(KLHL41):c.1038G>A (p.Gln346=)
NM_006063.3(KLHL41):c.1041A>T (p.Ile347=)
NM_006063.3(KLHL41):c.1044T>G (p.Tyr348Ter)
NM_006063.3(KLHL41):c.1055G>T (p.Gly352Val)
NM_006063.3(KLHL41):c.1076A>G (p.Asn359Ser)
NM_006063.3(KLHL41):c.1081G>T (p.Asp361Tyr)
NM_006063.3(KLHL41):c.1095G>A (p.Gln365=)
NM_006063.3(KLHL41):c.1110+10A>G
NM_006063.3(KLHL41):c.1110+17G>A
NM_006063.3(KLHL41):c.1110+6_1110+8del rs1186579373
NM_006063.3(KLHL41):c.1110+7A>G
NM_006063.3(KLHL41):c.1111-11G>A
NM_006063.3(KLHL41):c.1111-17A>G rs2105309672
NM_006063.3(KLHL41):c.1111-19T>A
NM_006063.3(KLHL41):c.1111-21_1111-18del rs143361344
NM_006063.3(KLHL41):c.1111-4del
NM_006063.3(KLHL41):c.1111-4dup rs752977858
NM_006063.3(KLHL41):c.1113C>T (p.Leu371=)
NM_006063.3(KLHL41):c.1114G>C (p.Asp372His)
NM_006063.3(KLHL41):c.1116T>C (p.Asp372=) rs762618255
NM_006063.3(KLHL41):c.1135G>A (p.Val379Ile) rs751438442
NM_006063.3(KLHL41):c.1152G>A (p.Leu384=) rs764468679
NM_006063.3(KLHL41):c.1173C>T (p.Phe391=)
NM_006063.3(KLHL41):c.1183G>A (p.Glu395Lys) rs1684085913
NM_006063.3(KLHL41):c.1191T>C (p.Asp397=)
NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr) rs1574351200
NM_006063.3(KLHL41):c.1202A>G (p.Tyr401Cys) rs2105309733
NM_006063.3(KLHL41):c.1205T>C (p.Val402Ala) rs1684086471
NM_006063.3(KLHL41):c.1225C>G (p.Gln409Glu) rs1168210084
NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu) rs730882260
NM_006063.3(KLHL41):c.1239G>A (p.Ser413=) rs376153838
NM_006063.3(KLHL41):c.1268T>C (p.Val423Ala) rs1225657950
NM_006063.3(KLHL41):c.1273G>A (p.Ala425Thr) rs1451090688
NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu) rs750512280
NM_006063.3(KLHL41):c.1296del (p.Lys432fs) rs1288106608
NM_006063.3(KLHL41):c.1307_1308del (p.Lys436fs) rs2105309832
NM_006063.3(KLHL41):c.1311C>T (p.Val437=) rs780783546
NM_006063.3(KLHL41):c.1313A>G (p.Tyr438Cys)
NM_006063.3(KLHL41):c.135T>C (p.Pro45=)
NM_006063.3(KLHL41):c.1363A>C (p.Lys455Gln) rs940791315
NM_006063.3(KLHL41):c.1376+15C>T
NM_006063.3(KLHL41):c.1377-8G>T rs1684143495
NM_006063.3(KLHL41):c.1393G>A (p.Val465Met)
NM_006063.3(KLHL41):c.1393G>T (p.Val465Leu)
NM_006063.3(KLHL41):c.1409C>T (p.Pro470Leu) rs779897118
NM_006063.3(KLHL41):c.1412A>G (p.Lys471Arg)
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs) rs749464576
NM_006063.3(KLHL41):c.1425G>A (p.Trp475Ter)
NM_006063.3(KLHL41):c.1432C>G (p.Leu478Val)
NM_006063.3(KLHL41):c.1438C>T (p.Pro480Ser)
NM_006063.3(KLHL41):c.145T>C (p.Leu49=)
NM_006063.3(KLHL41):c.1464T>G (p.Phe488Leu) rs2105311166
NM_006063.3(KLHL41):c.1468G>A (p.Val490Ile)
NM_006063.3(KLHL41):c.146T>C (p.Leu49Ser) rs1684003271
NM_006063.3(KLHL41):c.1477C>T (p.His493Tyr) rs2105311181
NM_006063.3(KLHL41):c.1528G>C (p.Ala510Pro)
NM_006063.3(KLHL41):c.1531T>C (p.Ser511Pro) rs1574352719
NM_006063.3(KLHL41):c.155_159del (p.Ser52fs)
NM_006063.3(KLHL41):c.1560T>C (p.Asn520=)
NM_006063.3(KLHL41):c.1561_1562+2del
NM_006063.3(KLHL41):c.1566G>A (p.Trp522Ter) rs2105312506
NM_006063.3(KLHL41):c.1580A>G (p.Glu527Gly) rs2105312517
NM_006063.3(KLHL41):c.1587C>G (p.Pro529=)
NM_006063.3(KLHL41):c.1590A>G (p.Gln530=)
NM_006063.3(KLHL41):c.1603A>T (p.Ile535Phe) rs2105312532
NM_006063.3(KLHL41):c.1605C>A (p.Ile535=)
NM_006063.3(KLHL41):c.1624G>C (p.Gly542Arg)
NM_006063.3(KLHL41):c.1632_1633del (p.Tyr545fs)
NM_006063.3(KLHL41):c.1641T>C (p.Ile547=) rs550333896
NM_006063.3(KLHL41):c.1654A>G (p.Met552Val)
NM_006063.3(KLHL41):c.1662A>G (p.Gln554=)
NM_006063.3(KLHL41):c.1662A>T (p.Gln554His) rs747439201
NM_006063.3(KLHL41):c.1666G>A (p.Glu556Lys)
NM_006063.3(KLHL41):c.1668G>A (p.Glu556=)
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) rs1247404453
NM_006063.3(KLHL41):c.1690G>T (p.Glu564Ter) rs2105312600
NM_006063.3(KLHL41):c.170_171delinsCT (p.Tyr57Ser) rs1684004022
NM_006063.3(KLHL41):c.1710-11dup rs762591099
NM_006063.3(KLHL41):c.1710-4_1710-2del rs1479320156
NM_006063.3(KLHL41):c.1710-4_1710-2dup
NM_006063.3(KLHL41):c.1712A>G (p.Tyr571Cys)
NM_006063.3(KLHL41):c.1717GAT[3] (p.Asp574dup) rs765973620
NM_006063.3(KLHL41):c.1748_1755del (p.Lys583fs) rs730882258
NM_006063.3(KLHL41):c.1764T>C (p.Ala588=)
NM_006063.3(KLHL41):c.176G>C (p.Arg59Pro) rs759521852
NM_006063.3(KLHL41):c.1776T>C (p.Ser592=) rs2105314694
NM_006063.3(KLHL41):c.1789C>A (p.Arg597Ser) rs1033276582
NM_006063.3(KLHL41):c.199G>C (p.Asp67His) rs1446324489
NM_006063.3(KLHL41):c.201T>C (p.Asp67=)
NM_006063.3(KLHL41):c.215del (p.Lys72fs) rs775513051
NM_006063.3(KLHL41):c.215dup (p.Glu73fs) rs775513051
NM_006063.3(KLHL41):c.223G>A (p.Val75Met)
NM_006063.3(KLHL41):c.229G>C (p.Asp77His) rs1222243445
NM_006063.3(KLHL41):c.22G>A (p.Ala8Thr) rs1684001399
NM_006063.3(KLHL41):c.233A>G (p.Asn78Ser)
NM_006063.3(KLHL41):c.241C>T (p.Pro81Ser)
NM_006063.3(KLHL41):c.266A>G (p.Lys89Arg)
NM_006063.3(KLHL41):c.273G>A (p.Leu91=) rs748989835
NM_006063.3(KLHL41):c.273G>T (p.Leu91=) rs748989835
NM_006063.3(KLHL41):c.276C>T (p.Tyr92=)
NM_006063.3(KLHL41):c.314A>G (p.Asp105Gly)
NM_006063.3(KLHL41):c.318T>G (p.Ile106Met) rs1684007542
NM_006063.3(KLHL41):c.335G>A (p.Arg112His)
NM_006063.3(KLHL41):c.33G>C (p.Leu11=)
NM_006063.3(KLHL41):c.376C>G (p.Leu126Val)
NM_006063.3(KLHL41):c.391G>A (p.Ala131Thr) rs1202015569
NM_006063.3(KLHL41):c.427C>T (p.Leu143Phe)
NM_006063.3(KLHL41):c.427CTT[2] (p.Leu145del) rs760524187
NM_006063.3(KLHL41):c.431T>C (p.Leu144Pro)
NM_006063.3(KLHL41):c.432T>C (p.Leu144=)
NM_006063.3(KLHL41):c.450C>T (p.Leu150=)
NM_006063.3(KLHL41):c.453C>A (p.Ala151=)
NM_006063.3(KLHL41):c.456T>C (p.Ile152=) rs2105307992
NM_006063.3(KLHL41):c.458C>A (p.Ser153Tyr) rs1684010288
NM_006063.3(KLHL41):c.459delinsACTC (p.Ser153_Ala154insLeu) rs730882257
NM_006063.3(KLHL41):c.463C>T (p.Arg155Cys)
NM_006063.3(KLHL41):c.464G>A (p.Arg155His)
NM_006063.3(KLHL41):c.468dup (p.Phe157fs)
NM_006063.3(KLHL41):c.495T>G (p.Ile165Met)
NM_006063.3(KLHL41):c.50C>G (p.Thr17Ser)
NM_006063.3(KLHL41):c.519A>G (p.Gln173=) rs144844327
NM_006063.3(KLHL41):c.519A>T (p.Gln173His) rs144844327
NM_006063.3(KLHL41):c.524C>G (p.Ser175Cys) rs1684011448
NM_006063.3(KLHL41):c.52C>T (p.Leu18Phe)
NM_006063.3(KLHL41):c.539T>A (p.Ile180Asn)
NM_006063.3(KLHL41):c.558C>G (p.Asp186Glu)
NM_006063.3(KLHL41):c.575AAG[2] (p.Glu194del) rs730882259
NM_006063.3(KLHL41):c.612G>A (p.Val204=)
NM_006063.3(KLHL41):c.61G>C (p.Asp21His)
NM_006063.3(KLHL41):c.631A>G (p.Arg211Gly) rs1684012984
NM_006063.3(KLHL41):c.641del (p.Asn214fs) rs730882235
NM_006063.3(KLHL41):c.657T>C (p.Phe219=) rs2105308093
NM_006063.3(KLHL41):c.65G>C (p.Gly22Ala) rs780361528
NM_006063.3(KLHL41):c.661T>A (p.Cys221Ser) rs2105308096
NM_006063.3(KLHL41):c.667C>A (p.Arg223Ser) rs754460870
NM_006063.3(KLHL41):c.734A>T (p.Asn245Ile) rs1684014413
NM_006063.3(KLHL41):c.73G>A (p.Asp25Asn)
NM_006063.3(KLHL41):c.73G>T (p.Asp25Tyr)
NM_006063.3(KLHL41):c.743T>C (p.Leu248Pro) rs1684014498
NM_006063.3(KLHL41):c.756_757insT (p.Lys253Ter)
NM_006063.3(KLHL41):c.769G>C (p.Asp257His) rs916111973
NM_006063.3(KLHL41):c.771T>C (p.Asp257=)
NM_006063.3(KLHL41):c.784A>G (p.Lys262Glu) rs759037384
NM_006063.3(KLHL41):c.78C>G (p.Leu26=)
NM_006063.3(KLHL41):c.801C>T (p.Ser267=)
NM_006063.3(KLHL41):c.807T>A (p.Asn269Lys) rs1684016282
NM_006063.3(KLHL41):c.810C>T (p.Ala270=)
NM_006063.3(KLHL41):c.869G>A (p.Gly290Asp)
NM_006063.3(KLHL41):c.869G>C (p.Gly290Ala)
NM_006063.3(KLHL41):c.881_890del (p.Asp294fs)
NM_006063.3(KLHL41):c.897A>C (p.Gly299=)
NM_006063.3(KLHL41):c.922T>C (p.Leu308=) rs2105308228
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs) rs1574349645
NM_006063.3(KLHL41):c.931G>A (p.Asp311Asn)
NM_006063.3(KLHL41):c.935C>T (p.Thr312Ile)
NM_006063.3(KLHL41):c.945G>A (p.Val315=)
NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys) rs781536513
NM_006063.3(KLHL41):c.99C>T (p.Ile33=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.