ClinVar Miner

List of variants in gene KIF1A reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 225
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
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.720+5G>A rs377502239 0.00029
NM_001244008.2(KIF1A):c.4985G>A (p.Arg1662His) rs199557318 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 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.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.1663G>A (p.Asp555Asn) rs375972461 0.00013
NM_001244008.2(KIF1A):c.4306G>A (p.Ala1436Thr) rs200126737 0.00013
NM_001244008.2(KIF1A):c.1856C>T (p.Ala619Val) rs765812659 0.00012
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.3646G>A (p.Ala1216Thr) rs368057315 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.4374C>T (p.Gly1458=) rs375309925 0.00009
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile) rs371831198 0.00009
NM_001244008.2(KIF1A):c.5332C>T (p.Arg1778Trp) rs765668490 0.00009
NM_001244008.2(KIF1A):c.3599C>T (p.Ser1200Leu) rs763750448 0.00008
NM_001244008.2(KIF1A):c.5368C>T (p.Arg1790Trp) rs375509312 0.00008
NM_001244008.2(KIF1A):c.137C>T (p.Thr46Met) rs182395595 0.00007
NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His) rs756912340 0.00007
NM_001244008.2(KIF1A):c.1290C>G (p.His430Gln) rs369856336 0.00006
NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met) rs370071963 0.00006
NM_001244008.2(KIF1A):c.2078C>T (p.Pro693Leu) rs756842462 0.00006
NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=) rs758111969 0.00006
NM_001244008.2(KIF1A):c.2269C>G (p.Gln757Glu) rs369410320 0.00006
NM_001244008.2(KIF1A):c.2716G>A (p.Val906Met) rs763933124 0.00006
NM_001244008.2(KIF1A):c.3674C>G (p.Pro1225Arg) rs377389267 0.00006
NM_001244008.2(KIF1A):c.4601C>T (p.Ser1534Leu) rs371486580 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.1276G>A (p.Val426Met) rs531522772 0.00005
NM_001244008.2(KIF1A):c.2654C>T (p.Thr885Ile) rs769876265 0.00005
NM_001244008.2(KIF1A):c.3010G>A (p.Val1004Ile) rs763669401 0.00005
NM_001244008.2(KIF1A):c.3928G>A (p.Asp1310Asn) rs371252476 0.00005
NM_001244008.2(KIF1A):c.5029G>A (p.Val1677Ile) rs757070178 0.00005
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn) rs199574770 0.00005
NM_001244008.2(KIF1A):c.1651G>A (p.Val551Ile) rs373891682 0.00004
NM_001244008.2(KIF1A):c.1862C>T (p.Thr621Met) rs760338913 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001244008.2(KIF1A):c.2812C>T (p.Arg938Trp) rs375371570 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.3602G>A (p.Arg1201His) rs765118465 0.00004
NM_001244008.2(KIF1A):c.385C>T (p.Arg129Trp) rs868067075 0.00004
NM_001244008.2(KIF1A):c.4006C>T (p.Arg1336Trp) rs367883171 0.00004
NM_001244008.2(KIF1A):c.4708C>T (p.His1570Tyr) rs528171871 0.00004
NM_001244008.2(KIF1A):c.4846C>T (p.Arg1616Trp) rs368124753 0.00004
NM_001244008.2(KIF1A):c.4975G>A (p.Glu1659Lys) rs764970503 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.1836G>A (p.Glu612=) rs879254322 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.1264C>T (p.Arg422Cys) rs374011613 0.00002
NM_001244008.2(KIF1A):c.2344A>G (p.Lys782Glu) rs569071678 0.00002
NM_001244008.2(KIF1A):c.2476G>A (p.Asp826Asn) rs748073694 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.3104C>T (p.Ser1035Leu) rs764873243 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.3943G>A (p.Asp1315Asn) rs749879166 0.00002
NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg) rs879253904 0.00002
NM_001244008.2(KIF1A):c.4660G>A (p.Val1554Ile) rs567408550 0.00002
NM_001244008.2(KIF1A):c.4723G>A (p.Val1575Ile) rs779019920 0.00002
NM_001244008.2(KIF1A):c.4820C>T (p.Ser1607Phe) rs768366163 0.00002
NM_001244008.2(KIF1A):c.658G>A (p.Val220Ile) rs201314877 0.00002
NM_001244008.2(KIF1A):c.713C>T (p.Thr238Met) rs780752268 0.00002
NM_001244008.2(KIF1A):c.1270G>A (p.Ala424Thr) rs749112240 0.00001
NM_001244008.2(KIF1A):c.1943A>G (p.Glu648Gly) rs749169628 0.00001
NM_001244008.2(KIF1A):c.1993G>T (p.Ala665Ser) rs780686801 0.00001
NM_001244008.2(KIF1A):c.2248G>A (p.Val750Met) rs374794257 0.00001
NM_001244008.2(KIF1A):c.2536G>A (p.Gly846Arg) rs768702963 0.00001
NM_001244008.2(KIF1A):c.2603A>G (p.Asn868Ser) rs1320287865 0.00001
NM_001244008.2(KIF1A):c.2976A>G (p.Ser992=) rs2049077964 0.00001
NM_001244008.2(KIF1A):c.3100C>T (p.Arg1034Cys) rs1036143999 0.00001
NM_001244008.2(KIF1A):c.3296A>G (p.Asn1099Ser) rs1288885072 0.00001
NM_001244008.2(KIF1A):c.3386G>A (p.Arg1129His) rs769283409 0.00001
NM_001244008.2(KIF1A):c.3580C>T (p.Leu1194Phe) rs901485293 0.00001
NM_001244008.2(KIF1A):c.3604C>T (p.Arg1202Cys) rs759228543 0.00001
NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp) rs368577433 0.00001
NM_001244008.2(KIF1A):c.3905G>A (p.Arg1302His) rs376697478 0.00001
NM_001244008.2(KIF1A):c.3911G>A (p.Arg1304Gln) rs762988579 0.00001
NM_001244008.2(KIF1A):c.398C>T (p.Thr133Met) rs548452545 0.00001
NM_001244008.2(KIF1A):c.4031C>T (p.Ala1344Val) rs876661146 0.00001
NM_001244008.2(KIF1A):c.4068C>T (p.Asn1356=) rs1481460597 0.00001
NM_001244008.2(KIF1A):c.406G>A (p.Asp136Asn) rs374178011 0.00001
NM_001244008.2(KIF1A):c.4194G>T (p.Lys1398Asn) rs745612845 0.00001
NM_001244008.2(KIF1A):c.4205C>T (p.Ser1402Leu) rs764487659 0.00001
NM_001244008.2(KIF1A):c.4297G>A (p.Val1433Met) rs879253922 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.4544C>T (p.Pro1515Leu) rs867230401 0.00001
NM_001244008.2(KIF1A):c.4790C>T (p.Pro1597Leu) rs374417779 0.00001
NM_001244008.2(KIF1A):c.4954C>T (p.Arg1652Trp) rs746442427 0.00001
NM_001244008.2(KIF1A):c.5024C>T (p.Pro1675Leu) rs779705838 0.00001
NM_001244008.2(KIF1A):c.5102G>A (p.Arg1701Gln) rs780828140 0.00001
NM_001244008.2(KIF1A):c.5167G>A (p.Ala1723Thr) rs879253903 0.00001
NM_001244008.2(KIF1A):c.686G>A (p.Arg229His) rs771122739 0.00001
NM_001244008.2(KIF1A):c.843C>A (p.Val281=) rs367790793 0.00001
GRCh37/hg19 2q37.3(chr2:241656421-241709397)x3
NM_001244008.2(KIF1A):c.1038-6A>G rs1064796903
NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)
NM_001244008.2(KIF1A):c.104C>G (p.Thr35Ser)
NM_001244008.2(KIF1A):c.1207+5G>A rs2125964190
NM_001244008.2(KIF1A):c.1244C>T (p.Ser415Leu) rs867278675
NM_001244008.2(KIF1A):c.1294C>T (p.Arg432Cys) rs763524814
NM_001244008.2(KIF1A):c.1297A>C (p.Ile433Leu) rs2125950614
NM_001244008.2(KIF1A):c.1325C>A (p.Ala442Asp)
NM_001244008.2(KIF1A):c.1396C>T (p.Arg466Trp) rs1283675580
NM_001244008.2(KIF1A):c.139C>T (p.Pro47Ser) rs2126098676
NM_001244008.2(KIF1A):c.1463A>T (p.Asp488Val) rs879253947
NM_001244008.2(KIF1A):c.1498A>C (p.Thr500Pro)
NM_001244008.2(KIF1A):c.1556A>G (p.Tyr519Cys) rs2125927165
NM_001244008.2(KIF1A):c.1721C>T (p.Thr574Ile)
NM_001244008.2(KIF1A):c.1763G>A (p.Arg588His) rs556945776
NM_001244008.2(KIF1A):c.1783A>G (p.Met595Val) rs2125906210
NM_001244008.2(KIF1A):c.1819G>A (p.Glu607Lys) rs2050754546
NM_001244008.2(KIF1A):c.1976G>A (p.Arg659His)
NM_001244008.2(KIF1A):c.2017C>T (p.Arg673Trp) rs2125904496
NM_001244008.2(KIF1A):c.202G>C (p.Ala68Pro) rs761950783
NM_001244008.2(KIF1A):c.2066C>T (p.Ser689Phe) rs1553633725
NM_001244008.2(KIF1A):c.2088C>G (p.Asn696Lys)
NM_001244008.2(KIF1A):c.2089GAG[6] (p.Glu701dup) rs771003443
NM_001244008.2(KIF1A):c.2162G>A (p.Arg721Gln) rs1159860840
NM_001244008.2(KIF1A):c.2170A>G (p.Lys724Glu) rs1363108222
NM_001244008.2(KIF1A):c.2194C>T (p.Arg732Trp) rs750310823
NM_001244008.2(KIF1A):c.2233_2235delinsTCT (p.Ala745Ser) rs2125893984
NM_001244008.2(KIF1A):c.2273T>G (p.Phe758Cys)
NM_001244008.2(KIF1A):c.2291C>G (p.Thr764Arg)
NM_001244008.2(KIF1A):c.2356A>G (p.Thr786Ala)
NM_001244008.2(KIF1A):c.2360G>A (p.Arg787Gln) rs372487596
NM_001244008.2(KIF1A):c.2369C>T (p.Pro790Leu)
NM_001244008.2(KIF1A):c.239A>G (p.Glu80Gly)
NM_001244008.2(KIF1A):c.2449C>A (p.Arg817Ser)
NM_001244008.2(KIF1A):c.2464C>T (p.Arg822Trp) rs1328033713
NM_001244008.2(KIF1A):c.2511G>T (p.Glu837Asp) rs2125875351
NM_001244008.2(KIF1A):c.2533G>T (p.Gly845Cys) rs761671317
NM_001244008.2(KIF1A):c.2593T>A (p.Ser865Thr)
NM_001244008.2(KIF1A):c.2658del (p.Ser887fs) rs2125869275
NM_001244008.2(KIF1A):c.2680G>C (p.Asp894His) rs1064796756
NM_001244008.2(KIF1A):c.2721GGA[8] (p.Glu915_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.2748G>T (p.Glu916Asp)
NM_001244008.2(KIF1A):c.2751G>T (p.Glu917Asp)
NM_001244008.2(KIF1A):c.2754_2756del (p.Asp918del)
NM_001244008.2(KIF1A):c.2754_2762del (p.Asp918_Glu920del) rs1370485087
NM_001244008.2(KIF1A):c.2754_2765del (p.Asp918_Glu921del)
NM_001244008.2(KIF1A):c.2767G>A (p.Asp923Asn) rs2049978668
NM_001244008.2(KIF1A):c.2783T>C (p.Val928Ala) rs2125867585
NM_001244008.2(KIF1A):c.2830C>T (p.Arg944Trp)
NM_001244008.2(KIF1A):c.2852T>C (p.Val951Ala)
NM_001244008.2(KIF1A):c.2891C>G (p.Pro964Arg) rs2049086985
NM_001244008.2(KIF1A):c.2977+5G>T
NM_001244008.2(KIF1A):c.3067C>T (p.Gln1023Ter) rs1426121066
NM_001244008.2(KIF1A):c.3091G>A (p.Gly1031Arg) rs1290838196
NM_001244008.2(KIF1A):c.3101G>T (p.Arg1034Leu) rs375775494
NM_001244008.2(KIF1A):c.3212C>A (p.Pro1071Gln) rs2125791983
NM_001244008.2(KIF1A):c.3242A>C (p.Lys1081Thr)
NM_001244008.2(KIF1A):c.3294C>T (p.Gly1098=)
NM_001244008.2(KIF1A):c.3320T>C (p.Val1107Ala) rs2125791301
NM_001244008.2(KIF1A):c.3355G>A (p.Asp1119Asn) rs2125791109
NM_001244008.2(KIF1A):c.3380T>C (p.Ile1127Thr) rs1559495436
NM_001244008.2(KIF1A):c.3394G>A (p.Glu1132Lys)
NM_001244008.2(KIF1A):c.3502A>C (p.Ile1168Leu)
NM_001244008.2(KIF1A):c.3515C>T (p.Pro1172Leu) rs2048306205
NM_001244008.2(KIF1A):c.3530T>C (p.Val1177Ala)
NM_001244008.2(KIF1A):c.3593G>A (p.Arg1198Lys) rs1301276540
NM_001244008.2(KIF1A):c.3605G>A (p.Arg1202His) rs770764947
NM_001244008.2(KIF1A):c.3609C>A (p.His1203Gln) rs1195379895
NM_001244008.2(KIF1A):c.368G>T (p.Cys123Phe) rs2126086858
NM_001244008.2(KIF1A):c.3739G>A (p.Ala1247Thr)
NM_001244008.2(KIF1A):c.3746G>A (p.Gly1249Asp)
NM_001244008.2(KIF1A):c.3919C>T (p.Pro1307Ser)
NM_001244008.2(KIF1A):c.3920C>T (p.Pro1307Leu) rs1085307567
NM_001244008.2(KIF1A):c.3947C>T (p.Pro1316Leu)
NM_001244008.2(KIF1A):c.3970C>T (p.Leu1324Phe) rs2125718724
NM_001244008.2(KIF1A):c.3995C>T (p.Ala1332Val)
NM_001244008.2(KIF1A):c.4008-3C>A
NM_001244008.2(KIF1A):c.4069C>T (p.Arg1357Trp) rs886042271
NM_001244008.2(KIF1A):c.4171G>A (p.Val1391Ile) rs373900978
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu) rs879253976
NM_001244008.2(KIF1A):c.4207C>T (p.Arg1403Cys)
NM_001244008.2(KIF1A):c.4208G>A (p.Arg1403His) rs537708830
NM_001244008.2(KIF1A):c.4255A>G (p.Ser1419Gly) rs1388325896
NM_001244008.2(KIF1A):c.4374_4375delinsTA (p.Glu1459Lys) rs2125604899
NM_001244008.2(KIF1A):c.4411A>G (p.Ser1471Gly)
NM_001244008.2(KIF1A):c.445A>G (p.Ile149Val)
NM_001244008.2(KIF1A):c.4480C>T (p.His1494Tyr) rs2125598661
NM_001244008.2(KIF1A):c.4571A>G (p.His1524Arg)
NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr) rs572923181
NM_001244008.2(KIF1A):c.4585G>T (p.Ala1529Ser) rs572923181
NM_001244008.2(KIF1A):c.475A>C (p.Asn159His)
NM_001244008.2(KIF1A):c.4804A>G (p.Thr1602Ala)
NM_001244008.2(KIF1A):c.4811C>T (p.Thr1604Ile) rs982977592
NM_001244008.2(KIF1A):c.4888C>T (p.Arg1630Trp) rs202072706
NM_001244008.2(KIF1A):c.4889G>T (p.Arg1630Leu) rs191428830
NM_001244008.2(KIF1A):c.4967C>G (p.Thr1656Arg)
NM_001244008.2(KIF1A):c.5046C>A (p.Tyr1682Ter) rs763144444
NM_001244008.2(KIF1A):c.5086C>A (p.Arg1696Ser) rs772521110
NM_001244008.2(KIF1A):c.5221A>G (p.Asn1741Asp)
NM_001244008.2(KIF1A):c.529T>G (p.Tyr177Asp)
NM_001244008.2(KIF1A):c.5333+4G>A
NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del) rs760590728
NM_001244008.2(KIF1A):c.5355G>T (p.Arg1785Ser) rs779509876
NM_001244008.2(KIF1A):c.536A>G (p.Glu179Gly) rs879253948
NM_001244008.2(KIF1A):c.538G>A (p.Asp180Asn) rs2126071302
NM_001244008.2(KIF1A):c.53G>A (p.Arg18Gln) rs1056534650
NM_001244008.2(KIF1A):c.611C>G (p.Thr204Ser) rs2126062797
NM_001244008.2(KIF1A):c.720+5G>C rs377502239
NM_001244008.2(KIF1A):c.721-11dup rs2054377646
NM_001244008.2(KIF1A):c.829_849del (p.Thr277_Ser283del) rs1057518407
NM_001244008.2(KIF1A):c.871G>A (p.Gly291Arg) rs201050463
NM_001244008.2(KIF1A):c.883-5C>G rs201408083
NM_001244008.2(KIF1A):c.893AGA[2] (p.Lys300del) rs751165127

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