ClinVar Miner

List of variants in gene KIF1A reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=) rs187810230 0.00252
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.3085G>A (p.Val1029Met) rs183359489 0.00160
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.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.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.4851C>T (p.Tyr1617=) rs202049905 0.00023
NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=) rs370913170 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.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.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.4512C>T (p.Thr1504=) rs377180036 0.00007
NM_001244008.2(KIF1A):c.4821C>T (p.Ser1607=) rs371014474 0.00007
NM_001244008.2(KIF1A):c.2865C>T (p.Phe955=) rs190534883 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.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.1080C>T (p.Ile360=) rs563701542 0.00004
NM_001244008.2(KIF1A):c.2187G>A (p.Thr729=) rs371859121 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.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.3930C>T (p.Asp1310=) rs368865450 0.00004
NM_001244008.2(KIF1A):c.4032G>A (p.Ala1344=) rs371203997 0.00004
NM_001244008.2(KIF1A):c.4659C>T (p.Ala1553=) rs1269754231 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.3600G>A (p.Ser1200=) rs762545111 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.5250C>T (p.Arg1750=) rs753129112 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.1269G>A (p.Ala423=) rs530550994 0.00002
NM_001244008.2(KIF1A):c.1275C>T (p.Ser425=) rs756211604 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.2934C>T (p.Gly978=) rs751977290 0.00002
NM_001244008.2(KIF1A):c.327C>A (p.Gly109=) rs776064107 0.00002
NM_001244008.2(KIF1A):c.4119C>T (p.Ile1373=) rs764237250 0.00002
NM_001244008.2(KIF1A):c.4596G>A (p.Pro1532=) rs952512510 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.5232G>A (p.Ala1744=) rs750647166 0.00002
NM_001244008.2(KIF1A):c.927C>T (p.Ser309=) rs748423559 0.00002
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.1962G>T (p.Leu654=) rs779460275 0.00001
NM_001244008.2(KIF1A):c.1989G>A (p.Glu663=) rs1371005890 0.00001
NM_001244008.2(KIF1A):c.2049G>A (p.Leu683=) rs373116562 0.00001
NM_001244008.2(KIF1A):c.2100G>A (p.Glu700=) rs374701055 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.297G>A (p.Thr99=) rs751855235 0.00001
NM_001244008.2(KIF1A):c.3045T>C (p.Asp1015=) rs757187351 0.00001
NM_001244008.2(KIF1A):c.3159C>T (p.Asp1053=) rs761993869 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.3435C>T (p.Gly1145=) rs369811703 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.411C>T (p.Asn137=) rs1447851714 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.4513G>A (p.Ala1505Thr) rs915433180 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.4908C>T (p.Pro1636=) rs759393763 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.693C>T (p.Asp231=) rs772411022 0.00001
NM_001244008.2(KIF1A):c.69C>T (p.Asp23=) rs774350715 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.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.1329T>C (p.Ile443=) rs761314693
NM_001244008.2(KIF1A):c.1587G>A (p.Arg529=) rs1318367754
NM_001244008.2(KIF1A):c.1818C>A (p.Pro606=) rs757613674
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.2445-4G>A
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=) rs201861261
NM_001244008.2(KIF1A):c.2688C>T (p.Asp896=) rs1553632633
NM_001244008.2(KIF1A):c.2721GGA[10] (p.Glu917del) rs10594016
NM_001244008.2(KIF1A):c.2721GGA[8] (p.Glu915_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.2754_2756del (p.Asp918del)
NM_001244008.2(KIF1A):c.2754_2765dup (p.Glu921_Glu922insAspGluGluGlu)
NM_001244008.2(KIF1A):c.2798C>A (p.Ala933Glu)
NM_001244008.2(KIF1A):c.2892C>G (p.Pro964=) rs771617148
NM_001244008.2(KIF1A):c.2949C>T (p.Phe983=) rs375672100
NM_001244008.2(KIF1A):c.2994T>C (p.Pro998=)
NM_001244008.2(KIF1A):c.3072C>G (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.3168C>A (p.Pro1056=) rs1553630541
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.3942C>A (p.Ile1314=) rs201423643
NM_001244008.2(KIF1A):c.4011C>T (p.Thr1337=)
NM_001244008.2(KIF1A):c.417C>T (p.Ser139=) rs763629643
NM_001244008.2(KIF1A):c.4236G>T (p.Gly1412=) rs1398284516
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.4623C>T (p.Pro1541=)
NM_001244008.2(KIF1A):c.4683G>C (p.Thr1561=) rs370908366
NM_001244008.2(KIF1A):c.4803C>A (p.Ala1601=)
NM_001244008.2(KIF1A):c.4926C>G (p.Ala1642=) rs376581099
NM_001244008.2(KIF1A):c.4995C>T (p.Val1665=)
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_001244008.2(KIF1A):c.5205T>G (p.Ala1735=) rs1553624254
NM_001244008.2(KIF1A):c.666C>T (p.Asn222=) rs797045654
NM_001244008.2(KIF1A):c.738G>A (p.Leu246=)
NM_001244008.2(KIF1A):c.786C>G (p.Gly262=) rs1290016793
NM_001244008.2(KIF1A):c.831C>T (p.Thr277=) rs1575624578

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