ClinVar Miner

List of variants in gene KLHL41 studied for nemaline myopathy 9

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 252
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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.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.535C>T (p.Leu179=) rs779057492 0.00003
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His) rs150768955 0.00002
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.443C>T (p.Pro148Leu) rs772160259 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_000002.11:g.(?_170382075)_(170382206_?)del
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=)

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