ClinVar Miner

List of variants studied for nemaline myopathy 8 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 420
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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.324A>G (p.Ala108=) rs35033264 0.03599
NM_152393.4(KLHL40):c.1053C>T (p.His351=) rs61736693 0.03162
NM_152393.4(KLHL40):c.1251C>G (p.Val417=) rs9872183 0.01087
NM_152393.4(KLHL40):c.1104C>T (p.Phe368=) rs147863385 0.00642
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.1762G>A (p.Glu588Lys) rs201856772 0.00182
NM_152393.4(KLHL40):c.872A>C (p.Lys291Thr) rs74843241 0.00168
NM_152393.4(KLHL40):c.1421+9G>A rs184819763 0.00148
NM_152393.4(KLHL40):c.600G>A (p.Arg200=) rs142392214 0.00090
NM_152393.4(KLHL40):c.1495G>A (p.Ala499Thr) rs148921329 0.00088
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.1801G>A (p.Ala601Thr) rs144659891 0.00066
NM_152393.4(KLHL40):c.1293G>A (p.Ser431=) rs150475700 0.00061
NM_152393.4(KLHL40):c.968T>G (p.Ile323Ser) rs146161469 0.00043
NM_152393.4(KLHL40):c.238G>C (p.Asp80His) rs144461124 0.00039
NM_152393.4(KLHL40):c.1371G>A (p.Val457=) rs142716131 0.00036
NM_152393.4(KLHL40):c.869C>A (p.Ala290Asp) rs201567167 0.00036
NM_152393.4(KLHL40):c.1738C>A (p.Leu580Ile) rs149980411 0.00033
NM_152393.4(KLHL40):c.277G>C (p.Glu93Gln) rs202061995 0.00024
NM_152393.4(KLHL40):c.1640G>A (p.Arg547His) rs144187563 0.00022
NM_152393.4(KLHL40):c.197C>G (p.Pro66Arg) rs200810691 0.00022
NM_152393.4(KLHL40):c.643C>T (p.Arg215Cys) rs376618797 0.00022
NM_152393.4(KLHL40):c.97C>T (p.Leu33Phe) rs138075372 0.00021
NM_152393.4(KLHL40):c.1681G>A (p.Ala561Thr) rs142487510 0.00019
NM_152393.4(KLHL40):c.1848G>A (p.Leu616=) rs141654883 0.00019
NM_152393.4(KLHL40):c.413G>C (p.Arg138Pro) rs142285083 0.00019
NM_152393.4(KLHL40):c.236C>T (p.Pro79Leu) rs779637973 0.00017
NM_152393.4(KLHL40):c.1450G>A (p.Asp484Asn) rs372246096 0.00016
NM_152393.4(KLHL40):c.1709C>T (p.Thr570Met) rs139268932 0.00016
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu) rs202096553 0.00016
NM_152393.4(KLHL40):c.836G>T (p.Gly279Val) rs144534091 0.00015
NM_152393.4(KLHL40):c.1062G>A (p.Leu354=) rs140334551 0.00012
NM_152393.4(KLHL40):c.1077C>G (p.Asn359Lys) rs377564589 0.00012
NM_152393.4(KLHL40):c.1621G>A (p.Glu541Lys) rs142761414 0.00012
NM_152393.4(KLHL40):c.1639C>T (p.Arg547Cys) rs187688307 0.00012
NM_152393.4(KLHL40):c.1162C>T (p.Leu388=) rs371586836 0.00011
NM_152393.4(KLHL40):c.1355T>C (p.Val452Ala) rs140389534 0.00011
NM_152393.4(KLHL40):c.1636G>C (p.Glu546Gln) rs137937929 0.00011
NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser) rs140056720 0.00011
NM_152393.4(KLHL40):c.1204C>T (p.Arg402Cys) rs149076152 0.00009
NM_152393.4(KLHL40):c.1590C>T (p.Tyr530=) rs372060961 0.00009
NM_152393.4(KLHL40):c.1414A>G (p.Ser472Gly) rs752099249 0.00008
NM_152393.4(KLHL40):c.125G>A (p.Arg42His) rs907216548 0.00007
NM_152393.4(KLHL40):c.1793G>A (p.Arg598Gln) rs775821505 0.00007
NM_152393.4(KLHL40):c.108G>A (p.Val36=) rs533754492 0.00006
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.1306G>A (p.Asp436Asn) rs372145157 0.00006
NM_152393.4(KLHL40):c.1313+9G>A rs368074669 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_152393.4(KLHL40):c.1443C>T (p.Cys481=) rs749572631 0.00006
NM_152393.4(KLHL40):c.1477C>G (p.Leu493Val) rs375270697 0.00006
NM_152393.4(KLHL40):c.1754+16G>A rs771808122 0.00006
NM_152393.4(KLHL40):c.182G>A (p.Arg61His) rs778276929 0.00006
NM_152393.4(KLHL40):c.355A>G (p.Ile119Val) rs1245898945 0.00006
NM_152393.4(KLHL40):c.1335G>A (p.Ser445=) rs149611135 0.00005
NM_152393.4(KLHL40):c.1595T>C (p.Ile532Thr) rs368161576 0.00005
NM_152393.4(KLHL40):c.1620C>T (p.Phe540=) rs199888675 0.00005
NM_152393.4(KLHL40):c.1710G>A (p.Thr570=) rs151268251 0.00005
NM_152393.4(KLHL40):c.117G>A (p.Ala39=) rs375030080 0.00004
NM_152393.4(KLHL40):c.1210C>G (p.Leu404Val) rs760491341 0.00004
NM_152393.4(KLHL40):c.1313+16G>A rs905310492 0.00004
NM_152393.4(KLHL40):c.1404C>T (p.Gly468=) rs766839036 0.00004
NM_152393.4(KLHL40):c.1467G>A (p.Glu489=) rs145033040 0.00004
NM_152393.4(KLHL40):c.1504C>T (p.Leu502Phe) rs766195312 0.00004
NM_152393.4(KLHL40):c.1558G>A (p.Asp520Asn) rs755836871 0.00004
NM_152393.4(KLHL40):c.1832T>C (p.Val611Ala) rs749220097 0.00004
NM_152393.4(KLHL40):c.1835G>A (p.Arg612Gln) rs143516959 0.00004
NM_152393.4(KLHL40):c.486G>A (p.Leu162=) rs375754573 0.00004
NM_152393.4(KLHL40):c.511G>A (p.Gly171Arg) rs199513801 0.00004
NM_152393.4(KLHL40):c.590C>A (p.Ala197Glu) rs757677971 0.00004
NM_152393.4(KLHL40):c.670G>T (p.Val224Leu) rs757444389 0.00004
NM_152393.4(KLHL40):c.834C>T (p.Ala278=) rs371152870 0.00004
NM_152393.4(KLHL40):c.1279C>T (p.Arg427Cys) rs577804609 0.00003
NM_152393.4(KLHL40):c.1292C>T (p.Ser431Leu) rs545767433 0.00003
NM_152393.4(KLHL40):c.1396G>T (p.Val466Leu) rs773720799 0.00003
NM_152393.4(KLHL40):c.1755-15C>T rs745306926 0.00003
NM_152393.4(KLHL40):c.1795G>C (p.Glu599Gln) rs764539039 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.642G>A (p.Gln214=) rs529383743 0.00003
NM_152393.4(KLHL40):c.769G>A (p.Val257Met) rs759025628 0.00003
NM_152393.4(KLHL40):c.1130C>T (p.Pro377Leu) rs760884994 0.00002
NM_152393.4(KLHL40):c.1138G>A (p.Ala380Thr) rs561674449 0.00002
NM_152393.4(KLHL40):c.1243T>C (p.Tyr415His) rs759757085 0.00002
NM_152393.4(KLHL40):c.1245C>T (p.Tyr415=) rs781322851 0.00002
NM_152393.4(KLHL40):c.124C>A (p.Arg42Ser) rs763047874 0.00002
NM_152393.4(KLHL40):c.1313+8T>C rs757710078 0.00002
NM_152393.4(KLHL40):c.1357T>C (p.Tyr453His) rs1305175995 0.00002
NM_152393.4(KLHL40):c.1369G>C (p.Val457Leu) rs568243443 0.00002
NM_152393.4(KLHL40):c.1439T>C (p.Met480Thr) rs920578484 0.00002
NM_152393.4(KLHL40):c.1493C>G (p.Thr498Ser) rs761479692 0.00002
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro) rs778022582 0.00002
NM_152393.4(KLHL40):c.1539C>T (p.Ile513=) rs535889406 0.00002
NM_152393.4(KLHL40):c.1557C>T (p.Thr519=) rs1314573843 0.00002
NM_152393.4(KLHL40):c.1567C>T (p.Leu523=) rs761258938 0.00002
NM_152393.4(KLHL40):c.1782G>A (p.Glu594=) rs371116469 0.00002
NM_152393.4(KLHL40):c.1789C>T (p.Leu597=) rs759554210 0.00002
NM_152393.4(KLHL40):c.388C>T (p.Leu130Phe) rs142509355 0.00002
NM_152393.4(KLHL40):c.475C>G (p.His159Asp) rs753666861 0.00002
NM_152393.4(KLHL40):c.515T>C (p.Leu172Pro) rs749614458 0.00002
NM_152393.4(KLHL40):c.522C>G (p.Ala174=) rs746373391 0.00002
NM_152393.4(KLHL40):c.653C>T (p.Pro218Leu) rs1023047173 0.00002
NM_152393.4(KLHL40):c.764A>G (p.Gln255Arg) rs139088361 0.00002
NM_152393.4(KLHL40):c.783C>A (p.His261Gln) rs769290437 0.00002
NM_152393.4(KLHL40):c.806G>A (p.Arg269Gln) rs770828570 0.00002
NM_152393.4(KLHL40):c.988G>T (p.Ala330Ser) rs1439774487 0.00002
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563 0.00001
NM_152393.4(KLHL40):c.1019G>C (p.Cys340Ser) rs758244161 0.00001
NM_152393.4(KLHL40):c.105T>C (p.Cys35=) rs1227493178 0.00001
NM_152393.4(KLHL40):c.1097G>A (p.Gly366Asp) rs952832025 0.00001
NM_152393.4(KLHL40):c.1149G>C (p.Leu383=) rs924226686 0.00001
NM_152393.4(KLHL40):c.1152+4C>T rs1553680497 0.00001
NM_152393.4(KLHL40):c.1161T>C (p.His387=) rs1269269565 0.00001
NM_152393.4(KLHL40):c.1191G>A (p.Pro397=) rs749787457 0.00001
NM_152393.4(KLHL40):c.1196C>T (p.Pro399Leu) rs770413516 0.00001
NM_152393.4(KLHL40):c.1197C>T (p.Pro399=) rs773889729 0.00001
NM_152393.4(KLHL40):c.1200G>A (p.Ser400=) rs759134022 0.00001
NM_152393.4(KLHL40):c.1246G>A (p.Val416Met) rs759198473 0.00001
NM_152393.4(KLHL40):c.1276G>A (p.Glu426Lys) rs760403231 0.00001
NM_152393.4(KLHL40):c.1305C>T (p.Tyr435=) rs573886282 0.00001
NM_152393.4(KLHL40):c.1312C>T (p.Leu438=) rs200589852 0.00001
NM_152393.4(KLHL40):c.1314-11G>A rs760691315 0.00001
NM_152393.4(KLHL40):c.1314-13C>T rs572795836 0.00001
NM_152393.4(KLHL40):c.1334C>T (p.Ser445Leu) rs375891897 0.00001
NM_152393.4(KLHL40):c.1345C>T (p.Pro449Ser) rs1194342086 0.00001
NM_152393.4(KLHL40):c.1350C>T (p.Tyr450=) rs1486566170 0.00001
NM_152393.4(KLHL40):c.1356G>A (p.Val452=) rs147355548 0.00001
NM_152393.4(KLHL40):c.1381A>G (p.Met461Val) rs776547008 0.00001
NM_152393.4(KLHL40):c.1395C>T (p.Tyr465=) rs139588377 0.00001
NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile) rs773720799 0.00001
NM_152393.4(KLHL40):c.1401T>C (p.Ile467=) rs1404197060 0.00001
NM_152393.4(KLHL40):c.1421+1G>T rs1186218257 0.00001
NM_152393.4(KLHL40):c.1422-5C>T rs778697765 0.00001
NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys) rs758188096 0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys) rs397509419 0.00001
NM_152393.4(KLHL40):c.1614A>G (p.Ala538=) rs1462670324 0.00001
NM_152393.4(KLHL40):c.1615C>T (p.Pro539Ser) rs758550223 0.00001
NM_152393.4(KLHL40):c.1616C>T (p.Pro539Leu) rs780261738 0.00001
NM_152393.4(KLHL40):c.1652G>A (p.Ser551Asn) rs373194829 0.00001
NM_152393.4(KLHL40):c.1673C>A (p.Thr558Asn) rs775375049 0.00001
NM_152393.4(KLHL40):c.1735G>A (p.Glu579Lys) rs756584441 0.00001
NM_152393.4(KLHL40):c.1737G>A (p.Glu579=) rs1420650513 0.00001
NM_152393.4(KLHL40):c.1800C>T (p.Ile600=) rs765778662 0.00001
NM_152393.4(KLHL40):c.1806T>C (p.Tyr602=) rs758044696 0.00001
NM_152393.4(KLHL40):c.1810G>T (p.Ala604Ser) rs1274671626 0.00001
NM_152393.4(KLHL40):c.1825C>T (p.Leu609=) rs200908056 0.00001
NM_152393.4(KLHL40):c.1844T>C (p.Val615Ala) rs1383540575 0.00001
NM_152393.4(KLHL40):c.193G>A (p.Glu65Lys) rs779869498 0.00001
NM_152393.4(KLHL40):c.207G>A (p.Ala69=) rs776029089 0.00001
NM_152393.4(KLHL40):c.211G>A (p.Glu71Lys) rs375331819 0.00001
NM_152393.4(KLHL40):c.225G>A (p.Glu75=) rs764839928 0.00001
NM_152393.4(KLHL40):c.231G>A (p.Val77=) rs1424119243 0.00001
NM_152393.4(KLHL40):c.248C>G (p.Ala83Gly) rs1246685748 0.00001
NM_152393.4(KLHL40):c.251A>G (p.Gln84Arg) rs780835485 0.00001
NM_152393.4(KLHL40):c.296C>T (p.Ala99Val) rs915743218 0.00001
NM_152393.4(KLHL40):c.300C>A (p.Ser100Arg) rs765609919 0.00001
NM_152393.4(KLHL40):c.341C>T (p.Pro114Leu) rs1333354759 0.00001
NM_152393.4(KLHL40):c.344C>T (p.Ser115Phe) rs371748730 0.00001
NM_152393.4(KLHL40):c.385T>G (p.Cys129Gly) rs765939784 0.00001
NM_152393.4(KLHL40):c.386G>C (p.Cys129Ser) rs751036389 0.00001
NM_152393.4(KLHL40):c.395A>G (p.Asn132Ser) rs767039942 0.00001
NM_152393.4(KLHL40):c.416T>C (p.Leu139Pro) rs1328688864 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.472G>T (p.Ala158Ser) rs562925616 0.00001
NM_152393.4(KLHL40):c.523G>A (p.Asp175Asn) rs771551921 0.00001
NM_152393.4(KLHL40):c.549C>T (p.Ser183=) rs138171438 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.610A>G (p.Ser204Gly) rs560260717 0.00001
NM_152393.4(KLHL40):c.611G>A (p.Ser204Asn) rs879858391 0.00001
NM_152393.4(KLHL40):c.619G>A (p.Ala207Thr) rs1479459996 0.00001
NM_152393.4(KLHL40):c.621C>G (p.Ala207=) rs761540320 0.00001
NM_152393.4(KLHL40):c.63C>T (p.Asp21=) rs759340232 0.00001
NM_152393.4(KLHL40):c.657C>T (p.Thr219=) rs1055071083 0.00001
NM_152393.4(KLHL40):c.710G>A (p.Arg237His) rs1697272315 0.00001
NM_152393.4(KLHL40):c.712G>A (p.Val238Met) rs1478443086 0.00001
NM_152393.4(KLHL40):c.724C>G (p.Pro242Ala) rs1312120521 0.00001
NM_152393.4(KLHL40):c.726T>A (p.Pro242=) rs1358830095 0.00001
NM_152393.4(KLHL40):c.738C>A (p.Ala246=) rs1400527780 0.00001
NM_152393.4(KLHL40):c.752T>A (p.Leu251Gln) rs928500134 0.00001
NM_152393.4(KLHL40):c.759G>C (p.Lys253Asn) rs370186438 0.00001
NM_152393.4(KLHL40):c.81G>A (p.Leu27=) rs1437347386 0.00001
NM_152393.4(KLHL40):c.864C>T (p.Ser288=) rs374925596 0.00001
NM_152393.4(KLHL40):c.86A>G (p.His29Arg) rs375788187 0.00001
NM_152393.4(KLHL40):c.876A>C (p.Ala292=) rs755562914 0.00001
NM_152393.4(KLHL40):c.885T>G (p.Asp295Glu) rs1229392663 0.00001
NM_152393.4(KLHL40):c.906T>C (p.Leu302=) rs772005109 0.00001
NM_152393.4(KLHL40):c.912G>A (p.Gly304=) rs775345089 0.00001
NM_152393.4(KLHL40):c.921T>G (p.Asn307Lys) rs746903692 0.00001
NM_152393.4(KLHL40):c.928C>T (p.Leu310=) rs554767539 0.00001
NM_152393.4(KLHL40):c.99C>T (p.Leu33=) rs567980135 0.00001
NC_000003.11:g.(?_42727101)_(42733495_?)dup
NC_000003.11:g.(?_42727111)_(42729814_?)dup
NC_000003.11:g.(?_42727111)_(42733485_?)dup
NC_000003.11:g.(?_42733354)_(42733485_?)dup
NM_152393.4(KLHL40):c.1007A>G (p.Asn336Ser) rs1225875238
NM_152393.4(KLHL40):c.1016A>G (p.Tyr339Cys)
NM_152393.4(KLHL40):c.1041C>T (p.Val347=)
NM_152393.4(KLHL40):c.104G>A (p.Cys35Tyr) rs866611021
NM_152393.4(KLHL40):c.1053C>A (p.His351Gln) rs61736693
NM_152393.4(KLHL40):c.1057A>C (p.Ser353Arg)
NM_152393.4(KLHL40):c.1086C>T (p.Phe362=)
NM_152393.4(KLHL40):c.1090G>C (p.Ala364Pro) rs1559613938
NM_152393.4(KLHL40):c.1110C>A (p.Asn370Lys) rs201966674
NM_152393.4(KLHL40):c.1110C>G (p.Asn370Lys)
NM_152393.4(KLHL40):c.1110C>T (p.Asn370=) rs201966674
NM_152393.4(KLHL40):c.1111G>C (p.Glu371Gln) rs771203108
NM_152393.4(KLHL40):c.1118A>T (p.Asn373Ile) rs779105816
NM_152393.4(KLHL40):c.1132A>T (p.Met378Leu) rs1697280326
NM_152393.4(KLHL40):c.1136_1137delinsAA (p.Ser379Lys) rs2125844947
NM_152393.4(KLHL40):c.1152+1G>A
NM_152393.4(KLHL40):c.1152+2T>A rs1575219191
NM_152393.4(KLHL40):c.1153-2A>T rs752493018
NM_152393.4(KLHL40):c.1153-3C>A rs767265252
NM_152393.4(KLHL40):c.1173G>A (p.Glu391=)
NM_152393.4(KLHL40):c.1183A>G (p.Met395Val) rs199854093
NM_152393.4(KLHL40):c.1193T>G (p.Leu398Arg)
NM_152393.4(KLHL40):c.119G>A (p.Gly40Asp) rs1575218183
NM_152393.4(KLHL40):c.1219C>T (p.Leu407=)
NM_152393.4(KLHL40):c.1231C>A (p.Leu411Ile)
NM_152393.4(KLHL40):c.1253G>T (p.Gly418Val) rs1697303545
NM_152393.4(KLHL40):c.125G>T (p.Arg42Leu) rs907216548
NM_152393.4(KLHL40):c.1263G>C (p.Glu421Asp) rs771421442
NM_152393.4(KLHL40):c.1275C>G (p.Gly425=)
NM_152393.4(KLHL40):c.1279C>A (p.Arg427Ser)
NM_152393.4(KLHL40):c.1280G>A (p.Arg427His)
NM_152393.4(KLHL40):c.1292C>A (p.Ser431Ter)
NM_152393.4(KLHL40):c.1293G>C (p.Ser431=) rs150475700
NM_152393.4(KLHL40):c.1294G>T (p.Val432Phe) rs759601864
NM_152393.4(KLHL40):c.1313+10G>A
NM_152393.4(KLHL40):c.1313+19G>A rs2125845367
NM_152393.4(KLHL40):c.1315T>A (p.Ser439Thr)
NM_152393.4(KLHL40):c.1317A>G (p.Ser439=)
NM_152393.4(KLHL40):c.1341G>T (p.Pro447=)
NM_152393.4(KLHL40):c.135G>C (p.Pro45=)
NM_152393.4(KLHL40):c.1370T>A (p.Val457Glu) rs1559614662
NM_152393.4(KLHL40):c.1372_1383del (p.Leu458_Met461del) rs1553680747
NM_152393.4(KLHL40):c.1373T>C (p.Leu458Pro) rs1697313619
NM_152393.4(KLHL40):c.1374C>G (p.Leu458=) rs1697313659
NM_152393.4(KLHL40):c.1383G>C (p.Met461Ile) rs762113138
NM_152393.4(KLHL40):c.1386C>T (p.Asp462=)
NM_152393.4(KLHL40):c.1395C>A (p.Tyr465Ter) rs139588377
NM_152393.4(KLHL40):c.13T>C (p.Leu5=)
NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys) rs367579275
NM_152393.4(KLHL40):c.1407C>T (p.Gly469=) rs1575220363
NM_152393.4(KLHL40):c.140A>T (p.His47Leu) rs759817120
NM_152393.4(KLHL40):c.1412_1415delinsC (p.Gly471_Ser472delinsAla) rs1427058930
NM_152393.4(KLHL40):c.1418A>G (p.Asp473Gly) rs1697314863
NM_152393.4(KLHL40):c.1422-10C>G rs377128183
NM_152393.4(KLHL40):c.1422-3C>A rs1697317994
NM_152393.4(KLHL40):c.1444G>A (p.Val482Ile)
NM_152393.4(KLHL40):c.1447T>C (p.Tyr483His)
NM_152393.4(KLHL40):c.1450dup (p.Asp484fs)
NM_152393.4(KLHL40):c.1451A>T (p.Asp484Val) rs2125845564
NM_152393.4(KLHL40):c.1458G>A (p.Lys486=)
NM_152393.4(KLHL40):c.1479G>C (p.Leu493=) rs557028600
NM_152393.4(KLHL40):c.148G>A (p.Val50Met) rs1004240706
NM_152393.4(KLHL40):c.148G>T (p.Val50Leu) rs1004240706
NM_152393.4(KLHL40):c.1494C>T (p.Thr498=)
NM_152393.4(KLHL40):c.1503_1504delinsCG (p.Leu502Val) rs2125845587
NM_152393.4(KLHL40):c.1504C>A (p.Leu502Ile) rs766195312
NM_152393.4(KLHL40):c.1513G>A (p.Ala505Thr)
NM_152393.4(KLHL40):c.1518T>C (p.Thr506=) rs371545830
NM_152393.4(KLHL40):c.1524T>C (p.His508=) rs1218296322
NM_152393.4(KLHL40):c.1528G>A (p.Gly510Ser) rs2125845594
NM_152393.4(KLHL40):c.1532G>A (p.Arg511His)
NM_152393.4(KLHL40):c.1547C>T (p.Ala516Val)
NM_152393.4(KLHL40):c.1552G>A (p.Val518Ile) rs1697321354
NM_152393.4(KLHL40):c.1552G>T (p.Val518Phe) rs1697321354
NM_152393.4(KLHL40):c.1560C>T (p.Asp520=)
NM_152393.4(KLHL40):c.1574G>C (p.Ser525Thr)
NM_152393.4(KLHL40):c.1598C>T (p.Thr533Ile) rs2125845619
NM_152393.4(KLHL40):c.1601A>G (p.Asp534Gly) rs1697322389
NM_152393.4(KLHL40):c.1607+13G>A
NM_152393.4(KLHL40):c.1607+17C>T
NM_152393.4(KLHL40):c.1607+1G>T rs2125845625
NM_152393.4(KLHL40):c.1607+9G>A rs757477975
NM_152393.4(KLHL40):c.1607A>G (p.Lys536Arg)
NM_152393.4(KLHL40):c.1608-17T>G
NM_152393.4(KLHL40):c.1608-1G>A rs2125846068
NM_152393.4(KLHL40):c.1608-1G>C
NM_152393.4(KLHL40):c.1608-3dup rs773899564
NM_152393.4(KLHL40):c.1608-4C>G rs2125846065
NM_152393.4(KLHL40):c.1608-9C>T rs2125846059
NM_152393.4(KLHL40):c.1618T>A (p.Phe540Ile) rs2125846077
NM_152393.4(KLHL40):c.1624G>T (p.Ala542Ser) rs1434763715
NM_152393.4(KLHL40):c.1628T>C (p.Phe543Ser) rs2125846086
NM_152393.4(KLHL40):c.164G>A (p.Ser55Asn) rs1697260624
NM_152393.4(KLHL40):c.1665G>T (p.Leu555=)
NM_152393.4(KLHL40):c.1668G>A (p.Val556=)
NM_152393.4(KLHL40):c.1702C>T (p.Leu568=)
NM_152393.4(KLHL40):c.1704G>A (p.Leu568=) rs1697354849
NM_152393.4(KLHL40):c.1713G>A (p.Glu571=)
NM_152393.4(KLHL40):c.1727T>C (p.Val576Ala)
NM_152393.4(KLHL40):c.1734A>C (p.Thr578=)
NM_152393.4(KLHL40):c.173del (p.Phe58fs) rs1697260724
NM_152393.4(KLHL40):c.1754+17G>A
NM_152393.4(KLHL40):c.1755-16T>A
NM_152393.4(KLHL40):c.1755G>A (p.Arg585=)
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.1767G>A (p.Glu589=)
NM_152393.4(KLHL40):c.177G>A (p.Arg59=)
NM_152393.4(KLHL40):c.1783G>A (p.Gly595Ser)
NM_152393.4(KLHL40):c.1792C>T (p.Arg598Trp) rs767572121
NM_152393.4(KLHL40):c.1793G>C (p.Arg598Pro) rs775821505
NM_152393.4(KLHL40):c.1801G>T (p.Ala601Ser) rs144659891
NM_152393.4(KLHL40):c.1814G>A (p.Gly605Asp)
NM_152393.4(KLHL40):c.1823T>C (p.Phe608Ser)
NM_152393.4(KLHL40):c.1833G>A (p.Val611=) rs2125846559
NM_152393.4(KLHL40):c.1834C>T (p.Arg612Trp)
NM_152393.4(KLHL40):c.1848_1849inv (p.Cys617Arg)
NM_152393.4(KLHL40):c.1849_1850inv (p.Cys617His)
NM_152393.4(KLHL40):c.1852C>T (p.Leu618=)
NM_152393.4(KLHL40):c.1854_1857del (p.Thr619fs) rs377241839
NM_152393.4(KLHL40):c.1858A>C (p.Lys620Gln) rs751003619
NM_152393.4(KLHL40):c.187C>T (p.Leu63=) rs995719770
NM_152393.4(KLHL40):c.189A>G (p.Leu63=) rs745589468
NM_152393.4(KLHL40):c.192C>G (p.Ala64=)
NM_152393.4(KLHL40):c.197C>T (p.Pro66Leu) rs200810691
NM_152393.4(KLHL40):c.205_214del (p.Ala69fs) rs2125844554
NM_152393.4(KLHL40):c.207G>C (p.Ala69=)
NM_152393.4(KLHL40):c.211G>T (p.Glu71Ter) rs375331819
NM_152393.4(KLHL40):c.221T>C (p.Leu74Pro)
NM_152393.4(KLHL40):c.222G>A (p.Leu74=)
NM_152393.4(KLHL40):c.223G>T (p.Glu75Ter) rs2125844563
NM_152393.4(KLHL40):c.22G>A (p.Ala8Thr) rs772847156
NM_152393.4(KLHL40):c.22_33del (p.Ala8_Gln11del) rs2125844451
NM_152393.4(KLHL40):c.23C>T (p.Ala8Val)
NM_152393.4(KLHL40):c.248C>T (p.Ala83Val) rs1246685748
NM_152393.4(KLHL40):c.270C>T (p.Tyr90=)
NM_152393.4(KLHL40):c.273A>G (p.Thr91=) rs1419343736
NM_152393.4(KLHL40):c.275C>G (p.Ser92Ter)
NM_152393.4(KLHL40):c.288G>A (p.Leu96=)
NM_152393.4(KLHL40):c.289G>T (p.Asp97Tyr)
NM_152393.4(KLHL40):c.295G>A (p.Ala99Thr) rs2125844586
NM_152393.4(KLHL40):c.303G>A (p.Val101=) rs574760880
NM_152393.4(KLHL40):c.321G>A (p.Ala107=)
NM_152393.4(KLHL40):c.344C>A (p.Ser115Tyr)
NM_152393.4(KLHL40):c.348C>A (p.Ile116=) rs768735358
NM_152393.4(KLHL40):c.353C>T (p.Thr118Ile) rs2125844609
NM_152393.4(KLHL40):c.354C>G (p.Thr118=)
NM_152393.4(KLHL40):c.359G>C (p.Cys120Ser)
NM_152393.4(KLHL40):c.35G>C (p.Arg12Pro) rs748935246
NM_152393.4(KLHL40):c.361G>C (p.Val121Leu) rs201494537
NM_152393.4(KLHL40):c.379C>T (p.Arg127Cys) rs1259316854
NM_152393.4(KLHL40):c.412C>T (p.Arg138Cys) rs752541165
NM_152393.4(KLHL40):c.419G>C (p.Gly140Ala)
NM_152393.4(KLHL40):c.433T>A (p.Cys145Ser) rs781200087
NM_152393.4(KLHL40):c.435C>T (p.Cys145=)
NM_152393.4(KLHL40):c.439C>A (p.Arg147Ser)
NM_152393.4(KLHL40):c.458G>A (p.Arg153His)
NM_152393.4(KLHL40):c.477C>T (p.His159=) rs2125844656
NM_152393.4(KLHL40):c.480C>T (p.Phe160=)
NM_152393.4(KLHL40):c.499G>T (p.Ala167Ser) rs2125844665
NM_152393.4(KLHL40):c.501T>G (p.Ala167=) rs1553680357
NM_152393.4(KLHL40):c.507C>T (p.Phe169=) rs2125844669
NM_152393.4(KLHL40):c.518C>G (p.Ser173Trp) rs774662858
NM_152393.4(KLHL40):c.519G>A (p.Ser173=) rs1184675035
NM_152393.4(KLHL40):c.52C>G (p.Leu18Val) rs888481518
NM_152393.4(KLHL40):c.544_545del (p.Ser182fs) rs1384412486
NM_152393.4(KLHL40):c.581T>A (p.Val194Glu) rs1250586231
NM_152393.4(KLHL40):c.58C>T (p.Gln20Ter) rs1292866391
NM_152393.4(KLHL40):c.595A>G (p.Met199Val) rs1697270672
NM_152393.4(KLHL40):c.598C>G (p.Arg200Gly) rs548002700
NM_152393.4(KLHL40):c.599G>A (p.Arg200Gln) rs1402508999
NM_152393.4(KLHL40):c.599G>T (p.Arg200Leu)
NM_152393.4(KLHL40):c.601T>C (p.Trp201Arg)
NM_152393.4(KLHL40):c.605C>G (p.Ala202Gly)
NM_152393.4(KLHL40):c.613G>A (p.Gly205Ser) rs746095931
NM_152393.4(KLHL40):c.613G>T (p.Gly205Cys) rs746095931
NM_152393.4(KLHL40):c.618C>T (p.Asp206=) rs867880713
NM_152393.4(KLHL40):c.619G>C (p.Ala207Pro)
NM_152393.4(KLHL40):c.631del (p.Ala211fs) rs752734208
NM_152393.4(KLHL40):c.637C>G (p.Arg213Gly)
NM_152393.4(KLHL40):c.654C>T (p.Pro218=)
NM_152393.4(KLHL40):c.655A>G (p.Thr219Ala)
NM_152393.4(KLHL40):c.673C>T (p.Arg225Cys) rs1697271848
NM_152393.4(KLHL40):c.680G>C (p.Arg227Pro) rs750754016
NM_152393.4(KLHL40):c.680G>T (p.Arg227Leu) rs750754016
NM_152393.4(KLHL40):c.693C>T (p.Arg231=) rs2125844758
NM_152393.4(KLHL40):c.6G>T (p.Ala2=)
NM_152393.4(KLHL40):c.709C>T (p.Arg237Cys)
NM_152393.4(KLHL40):c.719G>A (p.Arg240His) rs894967112
NM_152393.4(KLHL40):c.719G>C (p.Arg240Pro)
NM_152393.4(KLHL40):c.720C>T (p.Arg240=)
NM_152393.4(KLHL40):c.729C>T (p.Leu243=)
NM_152393.4(KLHL40):c.730G>A (p.Val244Met) rs1310855261
NM_152393.4(KLHL40):c.752T>G (p.Leu251Arg) rs928500134
NM_152393.4(KLHL40):c.755_757del (p.Arg252_Lys253delinsGln)
NM_152393.4(KLHL40):c.761T>G (p.Val254Gly) rs1575218760
NM_152393.4(KLHL40):c.768G>C (p.Met256Ile)
NM_152393.4(KLHL40):c.776A>C (p.Asp259Ala) rs2125844799
NM_152393.4(KLHL40):c.77T>G (p.Met26Arg)
NM_152393.4(KLHL40):c.780A>C (p.Ala260=)
NM_152393.4(KLHL40):c.785A>T (p.Glu262Val) rs2125844806
NM_152393.4(KLHL40):c.798C>A (p.Thr266=) rs1483236529
NM_152393.4(KLHL40):c.799A>T (p.Thr267Ser)
NM_152393.4(KLHL40):c.818dup (p.Lys275fs) rs1575218831
NM_152393.4(KLHL40):c.851A>T (p.Asp284Val) rs1697275753
NM_152393.4(KLHL40):c.85C>T (p.His29Tyr) rs370340355
NM_152393.4(KLHL40):c.879G>A (p.Glu293=)
NM_152393.4(KLHL40):c.887AGG[1] (p.Glu297del) rs1575218907
NM_152393.4(KLHL40):c.892G>T (p.Ala298Ser) rs777146142
NM_152393.4(KLHL40):c.901A>G (p.Ile301Val)
NM_152393.4(KLHL40):c.928del (p.Leu310fs) rs1055019439
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_152393.4(KLHL40):c.93G>T (p.Lys31Asn)
NM_152393.4(KLHL40):c.976G>A (p.Glu326Lys) rs1697277396
NM_152393.4(KLHL40):c.981C>A (p.Gly327=)
NM_152393.4(KLHL40):c.981C>T (p.Gly327=) rs1251409080
NM_152393.4(KLHL40):c.997C>G (p.Pro333Ala) rs1360434714

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