ClinVar Miner

List of variants in gene KIF1A reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 177
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu) rs201825284 0.00048
NM_001244008.2(KIF1A):c.1181-4A>G rs563345134 0.00034
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.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met) rs200511467 0.00021
NM_001244008.2(KIF1A):c.3234C>A (p.Ser1078Arg) rs553976598 0.00019
NM_001244008.2(KIF1A):c.4120G>A (p.Glu1374Lys) rs951775920 0.00018
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.4511C>T (p.Thr1504Ile) rs371831198 0.00009
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.4665+4G>C rs772449700 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.3584+6C>T rs371009856 0.00006
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys) rs377032453 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met) rs769279843 0.00006
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.5131G>A (p.Asp1711Asn) rs199574770 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.2147C>T (p.Ala716Val) rs555749038 0.00004
NM_001244008.2(KIF1A):c.2672C>T (p.Ser891Leu) rs778041447 0.00004
NM_001244008.2(KIF1A):c.2977+5G>A rs200583714 0.00004
NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr) rs527346259 0.00004
NM_001244008.2(KIF1A):c.385C>T (p.Arg129Trp) rs868067075 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.4999G>A (p.Asp1667Asn) rs754893576 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.3617G>A (p.Arg1206Gln) rs369849214 0.00003
NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn) rs200257048 0.00003
NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys) rs372226807 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.1264C>T (p.Arg422Cys) rs374011613 0.00002
NM_001244008.2(KIF1A):c.1265G>A (p.Arg422His) rs771678168 0.00002
NM_001244008.2(KIF1A):c.1363G>C (p.Glu455Gln) rs777894370 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.3271G>C (p.Ala1091Pro) rs779093187 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.363+4C>T rs770137926 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.4660G>A (p.Val1554Ile) rs567408550 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.608+3G>A rs367999658 0.00002
NM_001244008.2(KIF1A):c.658G>A (p.Val220Ile) rs201314877 0.00002
NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp) rs545501989 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.202G>A (p.Ala68Thr) rs761950783 0.00001
NM_001244008.2(KIF1A):c.2099A>G (p.Glu700Gly) rs1295868943 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.2536G>A (p.Gly846Arg) rs768702963 0.00001
NM_001244008.2(KIF1A):c.2909G>A (p.Arg970His) rs201742042 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.3287G>A (p.Arg1096His) rs780970120 0.00001
NM_001244008.2(KIF1A):c.3386G>A (p.Arg1129His) rs769283409 0.00001
NM_001244008.2(KIF1A):c.3554C>T (p.Pro1185Leu) rs1316844536 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.4217G>A (p.Arg1406His) rs755301795 0.00001
NM_001244008.2(KIF1A):c.4256+5G>A rs762550114 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.4529C>T (p.Pro1510Leu) rs368005947 0.00001
NM_001244008.2(KIF1A):c.4649G>A (p.Arg1550Gln) rs952804990 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.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.686G>A (p.Arg229His) rs771122739 0.00001
NM_001244008.2(KIF1A):c.799-4G>A rs759945798 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.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.134A>C (p.Glu45Ala)
NM_001244008.2(KIF1A):c.1658G>A (p.Arg553Gln)
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.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.2449C>T (p.Arg817Cys)
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.2690C>G (p.Ala897Gly)
NM_001244008.2(KIF1A):c.2704G>A (p.Glu902Lys)
NM_001244008.2(KIF1A):c.2734G>A (p.Glu912Lys)
NM_001244008.2(KIF1A):c.2789C>T (p.Pro930Leu)
NM_001244008.2(KIF1A):c.2819C>T (p.Pro940Leu)
NM_001244008.2(KIF1A):c.2834C>T (p.Pro945Leu)
NM_001244008.2(KIF1A):c.2949C>A (p.Phe983Leu)
NM_001244008.2(KIF1A):c.2978-3C>T rs1318205052
NM_001244008.2(KIF1A):c.3141CCAGGG[3] (p.1048QG[3]) rs2048566783
NM_001244008.2(KIF1A):c.3457G>A (p.Val1153Ile)
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.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.4229G>T (p.Gly1410Val) rs754172009
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.460G>A (p.Val154Ile)
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.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.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.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.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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.