ClinVar Miner

List of variants in gene KIF1A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 257
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HGVS dbSNP
GRCh37/hg19 2q37.3(chr2:241656421-241709397)x3
NC_000002.12:g.240750806dup
NM_001244008.1(KIF1A):c.2664C>T (p.Pro888=) rs1034765624
NM_001244008.1(KIF1A):c.2679C>T (p.Pro893=) rs779260684
NM_001244008.1(KIF1A):c.2680G>A (p.Asp894Asn) rs1064796756
NM_001244008.1(KIF1A):c.2716G>A (p.Val906Met) rs763933124
NM_001244008.1(KIF1A):c.2813G>A (p.Arg938Gln) rs192102667
NM_004321.7(KIF1A):c.-13G>A rs140017120
NM_004321.7(KIF1A):c.-28C>T rs774262411
NM_004321.7(KIF1A):c.-45T>C rs1553640536
NM_004321.7(KIF1A):c.-55C>T rs886055838
NM_004321.7(KIF1A):c.-61+13C>T rs1314973633
NM_004321.7(KIF1A):c.-65G>A
NM_004321.7(KIF1A):c.1037+171A>G
NM_004321.7(KIF1A):c.1038-229G>T
NM_004321.7(KIF1A):c.1038-6A>G rs1064796903
NM_004321.7(KIF1A):c.1040A>G (p.Tyr347Cys) rs879254004
NM_004321.7(KIF1A):c.106+47G>T
NM_004321.7(KIF1A):c.107-114G>A
NM_004321.7(KIF1A):c.1179C>T (p.Asp393=) rs779694088
NM_004321.7(KIF1A):c.1180+513C>T rs996110321
NM_004321.7(KIF1A):c.1181-270C>T
NM_004321.7(KIF1A):c.1181-73G>A
NM_004321.7(KIF1A):c.1194G>A (p.Leu398=) rs201242759
NM_004321.7(KIF1A):c.1237C>T (p.Arg413Cys) rs374011613
NM_004321.7(KIF1A):c.1242G>A (p.Ala414=) rs530550994
NM_004321.7(KIF1A):c.1314+305T>C
NM_004321.7(KIF1A):c.1314+7G>T rs184947396
NM_004321.7(KIF1A):c.138G>A (p.Thr46=) rs192880105
NM_004321.7(KIF1A):c.1394+19G>A rs200809257
NM_004321.7(KIF1A):c.1394+9C>T rs372601809
NM_004321.7(KIF1A):c.1395-50G>A
NM_004321.7(KIF1A):c.1395-8T>C rs368650174
NM_004321.7(KIF1A):c.1410C>T (p.Ala470=) rs375180690
NM_004321.7(KIF1A):c.1436A>T (p.Asp479Val) rs879253947
NM_004321.7(KIF1A):c.1450G>A (p.Gly484Ser) rs879253991
NM_004321.7(KIF1A):c.1471-255G>A
NM_004321.7(KIF1A):c.1476A>G (p.Pro492=) rs35663732
NM_004321.7(KIF1A):c.1636G>A (p.Asp546Asn) rs375972461
NM_004321.7(KIF1A):c.1657+299C>T
NM_004321.7(KIF1A):c.1658-13A>C rs575193535
NM_004321.7(KIF1A):c.1741+18G>A rs574613321
NM_004321.7(KIF1A):c.1741+19G>A rs1435141768
NM_004321.7(KIF1A):c.1741+267A>G
NM_004321.7(KIF1A):c.1742-9G>C rs756408004
NM_004321.7(KIF1A):c.1791C>A (p.Pro597=) rs757613674
NM_004321.7(KIF1A):c.1809G>A (p.Glu603=) rs879254322
NM_004321.7(KIF1A):c.1829C>T (p.Ala610Val) rs765812659
NM_004321.7(KIF1A):c.183+15C>T rs73102676
NM_004321.7(KIF1A):c.183+7C>T rs74469870
NM_004321.7(KIF1A):c.1835C>T (p.Thr612Met) rs760338913
NM_004321.7(KIF1A):c.184-10C>T rs7594776
NM_004321.7(KIF1A):c.184-111T>C
NM_004321.7(KIF1A):c.184-14T>C rs753798501
NM_004321.7(KIF1A):c.1922+22A>T
NM_004321.7(KIF1A):c.1935G>T (p.Leu645=) rs779460275
NM_004321.7(KIF1A):c.1953C>T (p.Arg651=) rs1355197070
NM_004321.7(KIF1A):c.1966G>T (p.Ala656Ser) rs780686801
NM_004321.7(KIF1A):c.1995+9C>T rs751175706
NM_004321.7(KIF1A):c.2039C>T (p.Ser680Phe) rs1553633725
NM_004321.7(KIF1A):c.204G>A (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.2061C>T (p.Asn687=) rs758111969
NM_004321.7(KIF1A):c.2089+12C>T rs192836330
NM_004321.7(KIF1A):c.2089+231G>A
NM_004321.7(KIF1A):c.2090-20C>T rs200852469
NM_004321.7(KIF1A):c.2208C>T (p.Ala736=) rs35945835
NM_004321.7(KIF1A):c.222_223insGAC (p.Arg75_Asp76insAsp) rs1064796046
NM_004321.7(KIF1A):c.2238+100C>T
NM_004321.7(KIF1A):c.2239-47C>A
NM_004321.7(KIF1A):c.2239-58G>A
NM_004321.7(KIF1A):c.2242C>G (p.Gln748Glu) rs369410320
NM_004321.7(KIF1A):c.234C>T (p.Gly78=) rs61744930
NM_004321.7(KIF1A):c.2358C>T (p.Ala786=) rs62637652
NM_004321.7(KIF1A):c.2417+17G>A rs749470460
NM_004321.7(KIF1A):c.2418-8C>T rs200705912
NM_004321.7(KIF1A):c.2448C>T (p.Tyr816=) rs199996308
NM_004321.7(KIF1A):c.2466G>T (p.Val822=) rs201861261
NM_004321.7(KIF1A):c.2496C>T (p.Asn832=) rs542220900
NM_004321.7(KIF1A):c.2506G>T (p.Gly836Cys) rs761671317
NM_004321.7(KIF1A):c.2509G>A (p.Gly837Arg) rs768702963
NM_004321.7(KIF1A):c.254C>A (p.Ala85Asp) rs1553639041
NM_004321.7(KIF1A):c.2555+11C>T
NM_004321.7(KIF1A):c.2555+121A>G
NM_004321.7(KIF1A):c.2555+4G>A rs572013653
NM_004321.7(KIF1A):c.2555+7G>A rs781439626
NM_004321.7(KIF1A):c.2555+925_2555+936del rs10594016
NM_004321.7(KIF1A):c.2556-231G>T
NM_004321.7(KIF1A):c.2589C>G (p.Pro863=) rs771617148
NM_004321.7(KIF1A):c.258T>C (p.Phe86=) rs183284555
NM_004321.7(KIF1A):c.2595C>G (p.Pro865=) rs140783695
NM_004321.7(KIF1A):c.2655G>C (p.Val885=) rs186881889
NM_004321.7(KIF1A):c.2674+5G>A rs200583714
NM_004321.7(KIF1A):c.2675-51C>T
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) rs116297894
NM_004321.7(KIF1A):c.2707G>A (p.Val903Ile) rs763669401
NM_004321.7(KIF1A):c.2761-228G>A
NM_004321.7(KIF1A):c.2761-79G>A
NM_004321.7(KIF1A):c.2764C>T (p.Gln922Ter) rs1426121066
NM_004321.7(KIF1A):c.2769C>G (p.Ser923=) rs73102625
NM_004321.7(KIF1A):c.2769C>T (p.Ser923=) rs73102625
NM_004321.7(KIF1A):c.2782G>A (p.Val928Met) rs183359489
NM_004321.7(KIF1A):c.2798G>T (p.Arg933Leu) rs375775494
NM_004321.7(KIF1A):c.2829C>A (p.Ile943=) rs373045276
NM_004321.7(KIF1A):c.2856C>T (p.Asp952=) rs761993869
NM_004321.7(KIF1A):c.2857G>A (p.Val953Met) rs371233697
NM_004321.7(KIF1A):c.2865C>A (p.Pro955=) rs1553630541
NM_004321.7(KIF1A):c.2899+10C>A rs190997558
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_004321.7(KIF1A):c.2979C>T (p.His993=) rs35664935
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_004321.7(KIF1A):c.3072-93C>T
NM_004321.7(KIF1A):c.308A>C (p.Lys103Thr) rs1553639011
NM_004321.7(KIF1A):c.3132C>T (p.Gly1044=) rs369811703
NM_004321.7(KIF1A):c.3162+184A>G
NM_004321.7(KIF1A):c.3163-9_3163-8delinsTT rs1553629930
NM_004321.7(KIF1A):c.3191T>C (p.Ile1064Thr) rs35698242
NM_004321.7(KIF1A):c.3252G>A (p.Pro1084=)
NM_004321.7(KIF1A):c.3281+11T>C rs376563968
NM_004321.7(KIF1A):c.3281+324C>T
NM_004321.7(KIF1A):c.3337+13T>C rs1361694043
NM_004321.7(KIF1A):c.3338-226G>A
NM_004321.7(KIF1A):c.3343G>A (p.Ala1115Thr) rs368057315
NM_004321.7(KIF1A):c.3371C>G (p.Pro1124Arg) rs377389267
NM_004321.7(KIF1A):c.3378G>A (p.Pro1126=) rs370913170
NM_004321.7(KIF1A):c.3446+42C>G
NM_004321.7(KIF1A):c.3446+53C>A
NM_004321.7(KIF1A):c.3513+18C>T rs201725464
NM_004321.7(KIF1A):c.3513+20C>T
NM_004321.7(KIF1A):c.3513+9C>T rs527731125
NM_004321.7(KIF1A):c.3549T>C (p.His1183=) rs184931664
NM_004321.7(KIF1A):c.3583C>G (p.Arg1195Gly) rs201684653
NM_004321.7(KIF1A):c.3598+11T>C rs56847463
NM_004321.7(KIF1A):c.3599-344C>A
NM_004321.7(KIF1A):c.3607C>T (p.Arg1203Ter) rs879254106
NM_004321.7(KIF1A):c.3617C>T (p.Pro1206Leu) rs1085307567
NM_004321.7(KIF1A):c.3625G>A (p.Asp1209Asn) rs371252476
NM_004321.7(KIF1A):c.363+16C>G
NM_004321.7(KIF1A):c.363+16C>T rs7594569
NM_004321.7(KIF1A):c.363+20C>G
NM_004321.7(KIF1A):c.3676G>A (p.Gly1226Arg) rs879253904
NM_004321.7(KIF1A):c.3728C>T (p.Ala1243Val) rs876661146
NM_004321.7(KIF1A):c.37C>A (p.Arg13Ser) rs1064794935
NM_004321.7(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_004321.7(KIF1A):c.3840G>A (p.Pro1280=) rs2241683
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_004321.7(KIF1A):c.393C>T (p.Asn131=) rs35139906
NM_004321.7(KIF1A):c.3946T>A (p.Ser1316Thr) rs200855792
NM_004321.7(KIF1A):c.3953+192del
NM_004321.7(KIF1A):c.3954-14_3954-12del rs778412941
NM_004321.7(KIF1A):c.3994G>A (p.Val1332Met) rs879253922
NM_004321.7(KIF1A):c.4005G>A (p.Ala1335=) rs370868080
NM_004321.7(KIF1A):c.4016-13G>A rs372386644
NM_004321.7(KIF1A):c.4016-44G>A
NM_004321.7(KIF1A):c.4162-10C>T rs750461872
NM_004321.7(KIF1A):c.41C>T (p.Pro14Leu) rs879253976
NM_004321.7(KIF1A):c.4208C>T (p.Thr1403Ile) rs371831198
NM_004321.7(KIF1A):c.4209C>T (p.Thr1403=) rs377180036
NM_004321.7(KIF1A):c.4227G>A (p.Pro1409=) rs767349300
NM_004321.7(KIF1A):c.423C>T (p.Ser141=) rs565992344
NM_004321.7(KIF1A):c.4241C>T (p.Pro1414Leu) rs867230401
NM_004321.7(KIF1A):c.4242G>T (p.Pro1414=) rs540399320
NM_004321.7(KIF1A):c.429+22T>C
NM_004321.7(KIF1A):c.429+267G>A
NM_004321.7(KIF1A):c.430-120C>T
NM_004321.7(KIF1A):c.430-14G>A rs201456681
NM_004321.7(KIF1A):c.430-156G>T
NM_004321.7(KIF1A):c.430-158T>C
NM_004321.7(KIF1A):c.430-162G>A
NM_004321.7(KIF1A):c.430-197T>C
NM_004321.7(KIF1A):c.430-207C>T
NM_004321.7(KIF1A):c.430-209C>T
NM_004321.7(KIF1A):c.430-221A>G
NM_004321.7(KIF1A):c.430-225A>T
NM_004321.7(KIF1A):c.430-228A>T
NM_004321.7(KIF1A):c.430-244del
NM_004321.7(KIF1A):c.430-249T>C
NM_004321.7(KIF1A):c.430-255G>A
NM_004321.7(KIF1A):c.430-256T>C
NM_004321.7(KIF1A):c.430-262_430-229del
NM_004321.7(KIF1A):c.430-278C>T
NM_004321.7(KIF1A):c.430-283C>T
NM_004321.7(KIF1A):c.430-286C>T
NM_004321.7(KIF1A):c.430-289A>G
NM_004321.7(KIF1A):c.430-290C>T
NM_004321.7(KIF1A):c.430-300G>T
NM_004321.7(KIF1A):c.430-308A>T
NM_004321.7(KIF1A):c.430-312T>C
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4309C>T (p.Arg1437Cys) rs200184619
NM_004321.7(KIF1A):c.4363-127G>T
NM_004321.7(KIF1A):c.4363-17G>A
NM_004321.7(KIF1A):c.4363-5C>T rs532806732
NM_004321.7(KIF1A):c.4405C>T (p.His1469Tyr) rs528171871
NM_004321.7(KIF1A):c.4440+246A>G
NM_004321.7(KIF1A):c.4441-4G>A rs771679601
NM_004321.7(KIF1A):c.4441-5C>T rs117815481
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004321.7(KIF1A):c.4475C>T (p.Pro1492Leu) rs200902828
NM_004321.7(KIF1A):c.4478C>T (p.Ser1493Leu) rs201825284
NM_004321.7(KIF1A):c.452G>A (p.Cys151Tyr) rs1553638655
NM_004321.7(KIF1A):c.4551T>A (p.Gly1517=) rs967325160
NM_004321.7(KIF1A):c.4566-25G>T
NM_004321.7(KIF1A):c.4586G>A (p.Arg1529Gln) rs191428830
NM_004321.7(KIF1A):c.4614G>A (p.Leu1538=) rs187810230
NM_004321.7(KIF1A):c.4623C>G (p.Ala1541=) rs376581099
NM_004321.7(KIF1A):c.4624G>A (p.Asp1542Asn) rs200141437
NM_004321.7(KIF1A):c.4718+16C>T rs138847355
NM_004321.7(KIF1A):c.4718+176A>G
NM_004321.7(KIF1A):c.4726G>A (p.Val1576Ile) rs757070178
NM_004321.7(KIF1A):c.4740G>A (p.Gly1580=) rs143815273
NM_004321.7(KIF1A):c.4788C>T (p.Phe1596=) rs372903282
NM_004321.7(KIF1A):c.4799G>A (p.Arg1600Gln) rs780828140
NM_004321.7(KIF1A):c.4828G>A (p.Asp1610Asn) rs199574770
NM_004321.7(KIF1A):c.4848G>T (p.Arg1616=) rs183583788
NM_004321.7(KIF1A):c.4864G>A (p.Ala1622Thr) rs879253903
NM_004321.7(KIF1A):c.4865C>T (p.Ala1622Val) rs199804623
NM_004321.7(KIF1A):c.4911+14C>T rs777141916
NM_004321.7(KIF1A):c.4912-234C>T
NM_004321.7(KIF1A):c.4938G>A (p.Thr1646=) rs375709030
NM_004321.7(KIF1A):c.4947C>T (p.Arg1649=) rs753129112
NM_004321.7(KIF1A):c.506G>A (p.Arg169Lys) rs876661168
NM_004321.7(KIF1A):c.512A>C (p.His171Pro) rs876661180
NM_004321.7(KIF1A):c.536A>G (p.Glu179Gly) rs879253948
NM_004321.7(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_004321.7(KIF1A):c.608+115C>T
NM_004321.7(KIF1A):c.608+35C>T
NM_004321.7(KIF1A):c.650C>G (p.Ser217Cys) rs876661202
NM_004321.7(KIF1A):c.657C>T (p.Ala219=) rs531993959
NM_004321.7(KIF1A):c.720+5G>C rs377502239
NM_004321.7(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_004321.7(KIF1A):c.761G>C (p.Arg254Pro) rs886041692
NM_004321.7(KIF1A):c.774G>A (p.Thr258=) rs774916700
NM_004321.7(KIF1A):c.798+186C>T
NM_004321.7(KIF1A):c.798+1G>A rs1064796565
NM_004321.7(KIF1A):c.799-235T>C
NM_004321.7(KIF1A):c.799-87T>C
NM_004321.7(KIF1A):c.803G>A (p.Gly268Glu) rs1057518226
NM_004321.7(KIF1A):c.815A>G (p.Asn272Ser) rs876661283
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_004321.7(KIF1A):c.829A>C (p.Thr277Pro) rs879254017
NM_004321.7(KIF1A):c.829_849del (p.Thr277_Ser283del) rs1057518407
NM_004321.7(KIF1A):c.850G>A (p.Ala284Thr) rs756136593
NM_004321.7(KIF1A):c.865-178C>T
NM_004321.7(KIF1A):c.876C>T (p.Pro292=) rs902561000
NM_004321.7(KIF1A):c.882+8G>A rs376552408
NM_004321.7(KIF1A):c.883-5C>A rs201408083
NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_004321.7(KIF1A):c.925T>C (p.Ser309Pro) rs879253998
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_004321.7(KIF1A):c.959-4del rs1064795079

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