ClinVar Miner

List of variants in gene KIF1A studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 352
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=) rs35945835 0.03379
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=) rs2241683 0.02108
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01973
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01793
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=) rs62637652 0.00997
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=) rs187810230 0.00252
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=) rs140783695 0.00209
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=) rs143815273 0.00194
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001244008.2(KIF1A):c.5025G>A (p.Pro1675=) rs148176695 0.00106
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=) rs368682964 0.00104
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=) rs201418175 0.00099
NM_001244008.2(KIF1A):c.2754T>G (p.Asp918Glu) rs143816642 0.00094
NM_001244008.2(KIF1A):c.883-5C>A rs201408083 0.00067
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00061
NM_001244008.2(KIF1A):c.3672G>A (p.Arg1224=) rs371024769 0.00053
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=) rs187442951 0.00053
NM_001244008.2(KIF1A):c.138G>A (p.Thr46=) rs192880105 0.00048
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001244008.2(KIF1A):c.2813G>A (p.Arg938Gln) rs192102667 0.00038
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu) rs200902828 0.00037
NM_001244008.2(KIF1A):c.405C>T (p.Asn135=) rs151212200 0.00036
NM_001244008.2(KIF1A):c.1181-4A>G rs563345134 0.00034
NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=) rs375180690 0.00032
NM_001244008.2(KIF1A):c.2079G>A (p.Pro693=) rs201961762 0.00032
NM_001244008.2(KIF1A):c.4581C>T (p.Ser1527=) rs373703367 0.00031
NM_001244008.2(KIF1A):c.720+5G>A rs377502239 0.00029
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001244008.2(KIF1A):c.4851C>T (p.Tyr1617=) rs202049905 0.00023
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00021
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_001244008.2(KIF1A):c.3234C>A (p.Ser1078Arg) rs553976598 0.00019
NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=) rs370913170 0.00018
NM_001244008.2(KIF1A):c.4120G>A (p.Glu1374Lys) rs951775920 0.00018
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=) rs775395101 0.00018
NM_001244008.2(KIF1A):c.4206G>A (p.Ser1402=) rs201656750 0.00017
NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr) rs201793635 0.00016
NM_001244008.2(KIF1A):c.4249T>A (p.Ser1417Thr) rs200855792 0.00016
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp) rs201139273 0.00016
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu) rs374244985 0.00015
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln) rs774604596 0.00014
NM_001244008.2(KIF1A):c.3094A>T (p.Met1032Leu) rs370378060 0.00014
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn) rs375972461 0.00013
NM_001244008.2(KIF1A):c.4306G>A (p.Ala1436Thr) rs200126737 0.00013
NM_001244008.2(KIF1A):c.1181-6C>G rs535005700 0.00011
NM_001244008.2(KIF1A):c.2758G>A (p.Glu920Lys) rs759716529 0.00011
NM_001244008.2(KIF1A):c.3160G>A (p.Val1054Met) rs371233697 0.00011
NM_001244008.2(KIF1A):c.3671G>A (p.Arg1224Gln) rs375993206 0.00011
NM_001244008.2(KIF1A):c.4498G>C (p.Glu1500Gln) rs376432305 0.00011
NM_001244008.2(KIF1A):c.4308G>A (p.Ala1436=) rs370868080 0.00010
NM_001244008.2(KIF1A):c.3465C>T (p.Asn1155=) rs371782922 0.00009
NM_001244008.2(KIF1A):c.4110C>T (p.Ser1370=) rs374134509 0.00009
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=) rs375309925 0.00009
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile) rs371831198 0.00009
NM_001244008.2(KIF1A):c.459C>T (p.Arg153=) rs201515208 0.00009
NM_001244008.2(KIF1A):c.5091C>T (p.Phe1697=) rs372903282 0.00009
NM_001244008.2(KIF1A):c.5151G>T (p.Arg1717=) rs183583788 0.00009
NM_001244008.2(KIF1A):c.1596C>T (p.Gly532=) rs754916421 0.00008
NM_001244008.2(KIF1A):c.3264G>A (p.Leu1088=) rs374238759 0.00008
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=) rs201733233 0.00008
NM_001244008.2(KIF1A):c.5368C>T (p.Arg1790Trp) rs375509312 0.00008
NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr) rs369842871 0.00007
NM_001244008.2(KIF1A):c.4512C>T (p.Thr1504=) rs377180036 0.00007
NM_001244008.2(KIF1A):c.4665+4G>C rs772449700 0.00007
NM_001244008.2(KIF1A):c.4821C>T (p.Ser1607=) rs371014474 0.00007
NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His) rs756912340 0.00007
NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met) rs370071963 0.00006
NM_001244008.2(KIF1A):c.2865C>T (p.Phe955=) rs190534883 0.00006
NM_001244008.2(KIF1A):c.3584+6C>T rs371009856 0.00006
NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=) rs771217469 0.00006
NM_001244008.2(KIF1A):c.4734C>T (p.Ser1578=) rs766419471 0.00006
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys) rs377032453 0.00006
NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met) rs769279843 0.00006
NM_001244008.2(KIF1A):c.5241G>A (p.Thr1747=) rs375709030 0.00006
NM_001244008.2(KIF1A):c.654C>T (p.His218=) rs751380608 0.00006
NM_001244008.2(KIF1A):c.657C>T (p.Ala219=) rs531993959 0.00006
NM_001244008.2(KIF1A):c.1680C>T (p.Ser560=) rs371260268 0.00005
NM_001244008.2(KIF1A):c.1844G>A (p.Arg615His) rs764578297 0.00005
NM_001244008.2(KIF1A):c.2264A>G (p.Lys755Arg) rs371402945 0.00005
NM_001244008.2(KIF1A):c.2494C>T (p.Pro832Ser) rs757726053 0.00005
NM_001244008.2(KIF1A):c.2654C>T (p.Thr885Ile) rs769876265 0.00005
NM_001244008.2(KIF1A):c.3928G>A (p.Asp1310Asn) rs371252476 0.00005
NM_001244008.2(KIF1A):c.4666-5C>T rs532806732 0.00005
NM_001244008.2(KIF1A):c.5063C>T (p.Pro1688Leu) rs549560429 0.00005
NM_001244008.2(KIF1A):c.5150G>A (p.Arg1717Gln) rs760970824 0.00005
NM_001244008.2(KIF1A):c.7G>A (p.Gly3Arg) rs751960710 0.00005
NM_001244008.2(KIF1A):c.1080C>T (p.Ile360=) rs563701542 0.00004
NM_001244008.2(KIF1A):c.2147C>T (p.Ala716Val) rs555749038 0.00004
NM_001244008.2(KIF1A):c.2187G>A (p.Thr729=) rs371859121 0.00004
NM_001244008.2(KIF1A):c.2672C>T (p.Ser891Leu) rs778041447 0.00004
NM_001244008.2(KIF1A):c.27G>A (p.Ala9=) rs753090169 0.00004
NM_001244008.2(KIF1A):c.282C>T (p.Phe94=) rs761915393 0.00004
NM_001244008.2(KIF1A):c.2977+5G>A rs200583714 0.00004
NM_001244008.2(KIF1A):c.3576C>T (p.Asp1192=) rs773965535 0.00004
NM_001244008.2(KIF1A):c.3693C>T (p.His1231=) rs375829173 0.00004
NM_001244008.2(KIF1A):c.3741C>T (p.Ala1247=) rs375646700 0.00004
NM_001244008.2(KIF1A):c.385C>T (p.Arg129Trp) rs868067075 0.00004
NM_001244008.2(KIF1A):c.3930C>T (p.Asp1310=) rs368865450 0.00004
NM_001244008.2(KIF1A):c.4032G>A (p.Ala1344=) rs371203997 0.00004
NM_001244008.2(KIF1A):c.4520G>A (p.Arg1507Gln) rs750045020 0.00004
NM_001244008.2(KIF1A):c.4613G>A (p.Arg1538His) rs371195054 0.00004
NM_001244008.2(KIF1A):c.4659C>T (p.Ala1553=) rs1269754231 0.00004
NM_001244008.2(KIF1A):c.4999G>A (p.Asp1667Asn) rs754893576 0.00004
NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=) rs745898229 0.00004
NM_001244008.2(KIF1A):c.612C>T (p.Thr204=) rs779712561 0.00004
NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr) rs756136593 0.00004
NM_001244008.2(KIF1A):c.1064G>A (p.Arg355His) rs373042822 0.00003
NM_001244008.2(KIF1A):c.2798C>T (p.Ala933Val) rs760841799 0.00003
NM_001244008.2(KIF1A):c.3600G>A (p.Ser1200=) rs762545111 0.00003
NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn) rs200257048 0.00003
NM_001244008.2(KIF1A):c.420C>T (p.Tyr140=) rs1300729090 0.00003
NM_001244008.2(KIF1A):c.4530G>A (p.Pro1510=) rs767349300 0.00003
NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys) rs372226807 0.00003
NM_001244008.2(KIF1A):c.5250C>T (p.Arg1750=) rs753129112 0.00003
NM_001244008.2(KIF1A):c.5334-4G>A rs758806789 0.00003
NM_001244008.2(KIF1A):c.699G>C (p.Glu233Asp) rs373882732 0.00003
NM_001244008.2(KIF1A):c.1110C>T (p.Arg370=) rs369641508 0.00002
NM_001244008.2(KIF1A):c.1167C>T (p.Gly389=) rs575222271 0.00002
NM_001244008.2(KIF1A):c.1264C>T (p.Arg422Cys) rs374011613 0.00002
NM_001244008.2(KIF1A):c.1265G>A (p.Arg422His) rs771678168 0.00002
NM_001244008.2(KIF1A):c.1269G>A (p.Ala423=) rs530550994 0.00002
NM_001244008.2(KIF1A):c.1275C>T (p.Ser425=) rs756211604 0.00002
NM_001244008.2(KIF1A):c.1363G>C (p.Glu455Gln) rs777894370 0.00002
NM_001244008.2(KIF1A):c.1980C>T (p.Arg660=) rs1355197070 0.00002
NM_001244008.2(KIF1A):c.2070G>A (p.Arg690=) rs749762798 0.00002
NM_001244008.2(KIF1A):c.2403G>A (p.Gln801=) rs770666285 0.00002
NM_001244008.2(KIF1A):c.2680G>A (p.Asp894Asn) rs1064796756 0.00002
NM_001244008.2(KIF1A):c.2908C>T (p.Arg970Cys) rs864309570 0.00002
NM_001244008.2(KIF1A):c.2934C>T (p.Gly978=) rs751977290 0.00002
NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro) rs779093187 0.00002
NM_001244008.2(KIF1A):c.327C>A (p.Gly109=) rs776064107 0.00002
NM_001244008.2(KIF1A):c.3385C>T (p.Arg1129Cys) rs774779281 0.00002
NM_001244008.2(KIF1A):c.3601C>T (p.Arg1201Cys) rs752464745 0.00002
NM_001244008.2(KIF1A):c.3721G>A (p.Glu1241Lys) rs770190085 0.00002
NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg) rs879253904 0.00002
NM_001244008.2(KIF1A):c.408C>G (p.Asp136Glu) rs761179236 0.00002
NM_001244008.2(KIF1A):c.4119C>T (p.Ile1373=) rs764237250 0.00002
NM_001244008.2(KIF1A):c.423C>T (p.Ser141=) rs565992344 0.00002
NM_001244008.2(KIF1A):c.4596G>A (p.Pro1532=) rs952512510 0.00002
NM_001244008.2(KIF1A):c.4660G>A (p.Val1554Ile) rs567408550 0.00002
NM_001244008.2(KIF1A):c.4716C>T (p.His1572=) rs375640417 0.00002
NM_001244008.2(KIF1A):c.4779G>A (p.Pro1593=) rs757313706 0.00002
NM_001244008.2(KIF1A):c.4820C>T (p.Ser1607Phe) rs768366163 0.00002
NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln) rs761974755 0.00002
NM_001244008.2(KIF1A):c.5232G>A (p.Ala1744=) rs750647166 0.00002
NM_001244008.2(KIF1A):c.608+3G>A rs367999658 0.00002
NM_001244008.2(KIF1A):c.658G>A (p.Val220Ile) rs201314877 0.00002
NM_001244008.2(KIF1A):c.927C>T (p.Ser309=) rs748423559 0.00002
NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp) rs545501989 0.00001
NM_001244008.2(KIF1A):c.1599G>A (p.Glu533=) rs758558877 0.00001
NM_001244008.2(KIF1A):c.1626G>A (p.Gly542=) rs1300873600 0.00001
NM_001244008.2(KIF1A):c.1794C>T (p.Ser598=) rs967827529 0.00001
NM_001244008.2(KIF1A):c.1863G>A (p.Thr621=) rs772785242 0.00001
NM_001244008.2(KIF1A):c.1897C>T (p.Arg633Cys) rs1454909533 0.00001
NM_001244008.2(KIF1A):c.1950-3C>T rs778033896 0.00001
NM_001244008.2(KIF1A):c.1962G>T (p.Leu654=) rs779460275 0.00001
NM_001244008.2(KIF1A):c.1989G>A (p.Glu663=) rs1371005890 0.00001
NM_001244008.2(KIF1A):c.202G>A (p.Ala68Thr) rs761950783 0.00001
NM_001244008.2(KIF1A):c.2049G>A (p.Leu683=) rs373116562 0.00001
NM_001244008.2(KIF1A):c.2099A>G (p.Glu700Gly) rs1295868943 0.00001
NM_001244008.2(KIF1A):c.2100G>A (p.Glu700=) rs374701055 0.00001
NM_001244008.2(KIF1A):c.2161C>T (p.Arg721Trp) rs747643976 0.00001
NM_001244008.2(KIF1A):c.2186C>T (p.Thr729Met) rs1443898180 0.00001
NM_001244008.2(KIF1A):c.2214C>T (p.Asn738=) rs551496176 0.00001
NM_001244008.2(KIF1A):c.231C>T (p.Ile77=) rs530669240 0.00001
NM_001244008.2(KIF1A):c.2358G>A (p.Thr786=) rs1177964009 0.00001
NM_001244008.2(KIF1A):c.2523C>T (p.Asn841=) rs542220900 0.00001
NM_001244008.2(KIF1A):c.2536G>A (p.Gly846Arg) rs768702963 0.00001
NM_001244008.2(KIF1A):c.2909G>A (p.Arg970His) rs201742042 0.00001
NM_001244008.2(KIF1A):c.297G>A (p.Thr99=) rs751855235 0.00001
NM_001244008.2(KIF1A):c.3045T>C (p.Asp1015=) rs757187351 0.00001
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) rs1356639316 0.00001
NM_001244008.2(KIF1A):c.3101G>A (p.Arg1034His) rs375775494 0.00001
NM_001244008.2(KIF1A):c.3159C>T (p.Asp1053=) rs761993869 0.00001
NM_001244008.2(KIF1A):c.3287G>A (p.Arg1096His) rs780970120 0.00001
NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=) rs542427011 0.00001
NM_001244008.2(KIF1A):c.3333C>T (p.Ser1111=) rs759578392 0.00001
NM_001244008.2(KIF1A):c.3386G>A (p.Arg1129His) rs769283409 0.00001
NM_001244008.2(KIF1A):c.3435C>T (p.Gly1145=) rs369811703 0.00001
NM_001244008.2(KIF1A):c.3554C>T (p.Pro1185Leu) rs1316844536 0.00001
NM_001244008.2(KIF1A):c.3585C>T (p.Ser1195=) rs907370883 0.00001
NM_001244008.2(KIF1A):c.3936C>A (p.Ser1312=) rs753295506 0.00001
NM_001244008.2(KIF1A):c.4004A>G (p.Asp1335Gly) rs747271930 0.00001
NM_001244008.2(KIF1A):c.4007G>A (p.Arg1336Gln) rs772545191 0.00001
NM_001244008.2(KIF1A):c.4045A>C (p.Met1349Leu) rs777103421 0.00001
NM_001244008.2(KIF1A):c.406G>A (p.Asp136Asn) rs374178011 0.00001
NM_001244008.2(KIF1A):c.4085G>A (p.Arg1362Gln) rs753620726 0.00001
NM_001244008.2(KIF1A):c.411C>T (p.Asn137=) rs1447851714 0.00001
NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His) rs755301795 0.00001
NM_001244008.2(KIF1A):c.4256+5G>A rs762550114 0.00001
NM_001244008.2(KIF1A):c.4263T>C (p.Arg1421=) rs1575522689 0.00001
NM_001244008.2(KIF1A):c.4278C>T (p.Tyr1426=) rs572662012 0.00001
NM_001244008.2(KIF1A):c.4297G>A (p.Val1433Met) rs879253922 0.00001
NM_001244008.2(KIF1A):c.4391G>T (p.Gly1464Val) rs1477553245 0.00001
NM_001244008.2(KIF1A):c.4513G>A (p.Ala1505Thr) rs915433180 0.00001
NM_001244008.2(KIF1A):c.4529C>T (p.Pro1510Leu) rs368005947 0.00001
NM_001244008.2(KIF1A):c.4649G>A (p.Arg1550Gln) rs952804990 0.00001
NM_001244008.2(KIF1A):c.4722C>T (p.Cys1574=) rs373532949 0.00001
NM_001244008.2(KIF1A):c.4809C>T (p.Leu1603=) rs75666979 0.00001
NM_001244008.2(KIF1A):c.4854T>A (p.Gly1618=) rs967325160 0.00001
NM_001244008.2(KIF1A):c.4864C>T (p.Leu1622=) rs1553624720 0.00001
NM_001244008.2(KIF1A):c.4869G>A (p.Arg1623=) rs372521322 0.00001
NM_001244008.2(KIF1A):c.4874C>T (p.Pro1625Leu) rs567604039 0.00001
NM_001244008.2(KIF1A):c.4880C>T (p.Pro1627Leu) rs763752868 0.00001
NM_001244008.2(KIF1A):c.4908C>T (p.Pro1636=) rs759393763 0.00001
NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu) rs184939069 0.00001
NM_001244008.2(KIF1A):c.5021+6T>C rs1179810798 0.00001
NM_001244008.2(KIF1A):c.5167G>A (p.Ala1723Thr) rs879253903 0.00001
NM_001244008.2(KIF1A):c.5369G>A (p.Arg1790Gln) rs1349426679 0.00001
NM_001244008.2(KIF1A):c.560C>T (p.Thr187Ile) rs370623844 0.00001
NM_001244008.2(KIF1A):c.627C>T (p.Asn209=) rs1418489378 0.00001
NM_001244008.2(KIF1A):c.639C>T (p.Thr213=) rs375365975 0.00001
NM_001244008.2(KIF1A):c.686G>A (p.Arg229His) rs771122739 0.00001
NM_001244008.2(KIF1A):c.693C>T (p.Asp231=) rs772411022 0.00001
NM_001244008.2(KIF1A):c.69C>T (p.Asp23=) rs774350715 0.00001
NM_001244008.2(KIF1A):c.799-4G>A rs759945798 0.00001
NM_001244008.2(KIF1A):c.843C>A (p.Val281=) rs367790793 0.00001
NM_001244008.2(KIF1A):c.876C>T (p.Pro292=) rs902561000 0.00001
NM_001244008.2(KIF1A):c.877A>T (p.Asn293Tyr) rs1042391791 0.00001
NM_001244008.2(KIF1A):c.1010A>G (p.Asn337Ser)
NM_001244008.2(KIF1A):c.1011C>T (p.Asn337=) rs1485121388
NM_001244008.2(KIF1A):c.1083T>C (p.Asn361=)
NM_001244008.2(KIF1A):c.1110C>A (p.Arg370=) rs369641508
NM_001244008.2(KIF1A):c.1166G>C (p.Gly389Ala)
NM_001244008.2(KIF1A):c.1205A>C (p.Lys402Thr)
NM_001244008.2(KIF1A):c.1234C>T (p.Pro412Ser)
NM_001244008.2(KIF1A):c.1277T>C (p.Val426Ala)
NM_001244008.2(KIF1A):c.1283G>A (p.Ser428Asn)
NM_001244008.2(KIF1A):c.1329T>C (p.Ile443=) rs761314693
NM_001244008.2(KIF1A):c.134A>C (p.Glu45Ala)
NM_001244008.2(KIF1A):c.1587G>A (p.Arg529=) rs1318367754
NM_001244008.2(KIF1A):c.1658G>A (p.Arg553Gln)
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.1818C>A (p.Pro606=) rs757613674
NM_001244008.2(KIF1A):c.1826C>T (p.Ala609Val)
NM_001244008.2(KIF1A):c.1829G>A (p.Arg610Gln)
NM_001244008.2(KIF1A):c.1950-4G>T
NM_001244008.2(KIF1A):c.1951C>A (p.Leu651Ile)
NM_001244008.2(KIF1A):c.1984C>T (p.Arg662Trp)
NM_001244008.2(KIF1A):c.1997C>G (p.Thr666Ser)
NM_001244008.2(KIF1A):c.2034C>G (p.Ser678Arg)
NM_001244008.2(KIF1A):c.204G>A (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.2089G>A (p.Glu697Lys)
NM_001244008.2(KIF1A):c.2089GAG[6] (p.Glu701dup) rs771003443
NM_001244008.2(KIF1A):c.2255T>C (p.Leu752Pro)
NM_001244008.2(KIF1A):c.2266-4A>C rs760023084
NM_001244008.2(KIF1A):c.2445-4G>A
NM_001244008.2(KIF1A):c.2449C>T (p.Arg817Cys)
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=) rs201861261
NM_001244008.2(KIF1A):c.2497T>C (p.Ser833Pro)
NM_001244008.2(KIF1A):c.2614C>A (p.Leu872Ile)
NM_001244008.2(KIF1A):c.2616del (p.Leu873fs)
NM_001244008.2(KIF1A):c.2638C>T (p.Arg880Cys)
NM_001244008.2(KIF1A):c.2678C>T (p.Pro893Leu)
NM_001244008.2(KIF1A):c.2688C>T (p.Asp896=) rs1553632633
NM_001244008.2(KIF1A):c.2690C>G (p.Ala897Gly)
NM_001244008.2(KIF1A):c.2704G>A (p.Glu902Lys)
NM_001244008.2(KIF1A):c.2721GGA[10] (p.Glu917del) rs10594016
NM_001244008.2(KIF1A):c.2721GGA[7] (p.Glu914_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.2721GGA[8] (p.Glu915_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.2734G>A (p.Glu912Lys)
NM_001244008.2(KIF1A):c.2754_2756del (p.Asp918del)
NM_001244008.2(KIF1A):c.2754_2765dup (p.Glu921_Glu922insAspGluGluGlu)
NM_001244008.2(KIF1A):c.2789C>T (p.Pro930Leu)
NM_001244008.2(KIF1A):c.2798C>A (p.Ala933Glu)
NM_001244008.2(KIF1A):c.2819C>T (p.Pro940Leu)
NM_001244008.2(KIF1A):c.2834C>T (p.Pro945Leu)
NM_001244008.2(KIF1A):c.2892C>G (p.Pro964=) rs771617148
NM_001244008.2(KIF1A):c.2949C>A (p.Phe983Leu)
NM_001244008.2(KIF1A):c.2949C>T (p.Phe983=) rs375672100
NM_001244008.2(KIF1A):c.2978-3C>T rs1318205052
NM_001244008.2(KIF1A):c.2994T>C (p.Pro998=)
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3084C>T (p.Pro1028=)
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=) rs373045276
NM_001244008.2(KIF1A):c.3138G>A (p.Glu1046=) rs1553630555
NM_001244008.2(KIF1A):c.3141CCAGGG[3] (p.1048QG[3]) rs2048566783
NM_001244008.2(KIF1A):c.3168C>A (p.Pro1056=) rs1553630541
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001244008.2(KIF1A):c.3327G>A (p.Gln1109=) rs752843807
NM_001244008.2(KIF1A):c.3381C>T (p.Ile1127=)
NM_001244008.2(KIF1A):c.3393C>T (p.Asp1131=)
NM_001244008.2(KIF1A):c.3457G>A (p.Val1153Ile)
NM_001244008.2(KIF1A):c.350G>T (p.Gly117Val) rs1200817308
NM_001244008.2(KIF1A):c.3585-4A>G rs755269372
NM_001244008.2(KIF1A):c.3680C>A (p.Pro1227Gln)
NM_001244008.2(KIF1A):c.392A>T (p.Asn131Ile)
NM_001244008.2(KIF1A):c.3942C>A (p.Ile1314=) rs201423643
NM_001244008.2(KIF1A):c.4011C>T (p.Thr1337=)
NM_001244008.2(KIF1A):c.4021T>C (p.Phe1341Leu) rs1559480429
NM_001244008.2(KIF1A):c.4025A>G (p.Glu1342Gly) rs1465561800
NM_001244008.2(KIF1A):c.4072G>A (p.Val1358Ile)
NM_001244008.2(KIF1A):c.4123A>G (p.Met1375Val)
NM_001244008.2(KIF1A):c.4130A>G (p.Asn1377Ser)
NM_001244008.2(KIF1A):c.417C>T (p.Ser139=) rs763629643
NM_001244008.2(KIF1A):c.4229G>T (p.Gly1410Val) rs754172009
NM_001244008.2(KIF1A):c.4236G>T (p.Gly1412=) rs1398284516
NM_001244008.2(KIF1A):c.4330C>T (p.Arg1444Trp)
NM_001244008.2(KIF1A):c.4406G>A (p.Ser1469Asn)
NM_001244008.2(KIF1A):c.4442A>G (p.Glu1481Gly)
NM_001244008.2(KIF1A):c.4509G>A (p.Glu1503=) rs1229202517
NM_001244008.2(KIF1A):c.4545G>T (p.Pro1515=) rs540399320
NM_001244008.2(KIF1A):c.4575C>T (p.Gly1525=) rs1553625168
NM_001244008.2(KIF1A):c.460G>A (p.Val154Ile)
NM_001244008.2(KIF1A):c.4623C>T (p.Pro1541=)
NM_001244008.2(KIF1A):c.4683G>C (p.Thr1561=) rs370908366
NM_001244008.2(KIF1A):c.469C>T (p.Leu157Phe) rs2054761091
NM_001244008.2(KIF1A):c.4739G>A (p.Ser1580Asn) rs2045427297
NM_001244008.2(KIF1A):c.4744-6C>T
NM_001244008.2(KIF1A):c.4775A>G (p.Asp1592Gly) rs1461573563
NM_001244008.2(KIF1A):c.4783A>G (p.Met1595Val)
NM_001244008.2(KIF1A):c.4803C>A (p.Ala1601=)
NM_001244008.2(KIF1A):c.4807C>G (p.Leu1603Val)
NM_001244008.2(KIF1A):c.482A>C (p.Lys161Thr)
NM_001244008.2(KIF1A):c.4832C>T (p.Ser1611Phe)
NM_001244008.2(KIF1A):c.4926C>G (p.Ala1642=) rs376581099
NM_001244008.2(KIF1A):c.4935G>C (p.Lys1645Asn)
NM_001244008.2(KIF1A):c.4951G>C (p.Ala1651Pro)
NM_001244008.2(KIF1A):c.4957G>A (p.Ala1653Thr) rs2045073432
NM_001244008.2(KIF1A):c.4967C>G (p.Thr1656Arg)
NM_001244008.2(KIF1A):c.4995C>T (p.Val1665=)
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_001244008.2(KIF1A):c.5086C>T (p.Arg1696Cys) rs772521110
NM_001244008.2(KIF1A):c.5129G>C (p.Ser1710Thr)
NM_001244008.2(KIF1A):c.5147A>G (p.Glu1716Gly)
NM_001244008.2(KIF1A):c.5171C>G (p.Thr1724Ser)
NM_001244008.2(KIF1A):c.5205T>G (p.Ala1735=) rs1553624254
NM_001244008.2(KIF1A):c.5214+3G>A rs1394328434
NM_001244008.2(KIF1A):c.5214+4C>A rs1173881899
NM_001244008.2(KIF1A):c.53G>A (p.Arg18Gln) rs1056534650
NM_001244008.2(KIF1A):c.611C>A (p.Thr204Asn)
NM_001244008.2(KIF1A):c.641G>A (p.Ser214Asn) rs1553638309
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001244008.2(KIF1A):c.666C>T (p.Asn222=) rs797045654
NM_001244008.2(KIF1A):c.738G>A (p.Leu246=)
NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro) rs672601371
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.786C>G (p.Gly262=) rs1290016793
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys) rs1553637932
NM_001244008.2(KIF1A):c.824T>C (p.Leu275Pro) rs2054279545
NM_001244008.2(KIF1A):c.831C>T (p.Thr277=) rs1575624578
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370

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