ClinVar Miner

List of variants in gene KIF1A reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
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.*2403G>A rs115916702 0.00474
NM_001244008.2(KIF1A):c.*1241G>T rs114566813 0.00473
NM_001244008.2(KIF1A):c.*1418G>A rs115877951 0.00472
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.183+7C>T rs74469870 0.00324
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.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.883-5C>A rs201408083 0.00067
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00061
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001244008.2(KIF1A):c.1341+7G>T rs184947396 0.00044
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.1437C>T (p.Ala479=) rs375180690 0.00032
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
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.4744-5C>T rs117815481 0.00024
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.3681G>A (p.Pro1227=) rs370913170 0.00018
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp) rs201139273 0.00016
NM_001244008.2(KIF1A):c.1221G>A (p.Leu407=) rs201242759 0.00012
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.774G>A (p.Thr258=) rs774916700 0.00010
NM_001244008.2(KIF1A):c.4110C>T (p.Ser1370=) rs374134509 0.00009
NM_001244008.2(KIF1A):c.459C>T (p.Arg153=) rs201515208 0.00009
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=) rs201733233 0.00008
NM_001244008.2(KIF1A):c.137C>T (p.Thr46Met) rs182395595 0.00007
NM_001244008.2(KIF1A):c.3202+7C>T rs781712580 0.00007
NM_001244008.2(KIF1A):c.4512C>T (p.Thr1504=) rs377180036 0.00007
NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met) rs370071963 0.00006
NM_001244008.2(KIF1A):c.3674C>G (p.Pro1225Arg) rs377389267 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001244008.2(KIF1A):c.883-3C>T rs111507743 0.00006
NM_001244008.2(KIF1A):c.2494C>T (p.Pro832Ser) rs757726053 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.1651G>A (p.Val551Ile) rs373891682 0.00004
NM_001244008.2(KIF1A):c.1862C>T (p.Thr621Met) rs760338913 0.00004
NM_001244008.2(KIF1A):c.2672C>T (p.Ser891Leu) rs778041447 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.4520G>A (p.Arg1507Gln) rs750045020 0.00004
NM_001244008.2(KIF1A):c.789G>A (p.Thr263=) rs368610026 0.00004
NM_001244008.2(KIF1A):c.1064G>A (p.Arg355His) rs373042822 0.00003
NM_001244008.2(KIF1A):c.2409C>T (p.Asn803=) rs746800505 0.00003
NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn) rs200257048 0.00003
NM_001244008.2(KIF1A):c.4176C>T (p.Phe1392=) rs754203456 0.00003
NM_001244008.2(KIF1A):c.420C>T (p.Tyr140=) rs1300729090 0.00003
NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=) rs747267404 0.00003
NM_001244008.2(KIF1A):c.4669T>C (p.Leu1557=) rs774851890 0.00003
NM_001244008.2(KIF1A):c.3465+4C>T rs879064869 0.00002
NM_001244008.2(KIF1A):c.423C>T (p.Ser141=) rs565992344 0.00002
NM_001244008.2(KIF1A):c.4660G>A (p.Val1554Ile) rs567408550 0.00002
NM_001244008.2(KIF1A):c.4834C>T (p.Leu1612=) rs772100288 0.00002
NM_001244008.2(KIF1A):c.502G>A (p.Val168Met) rs1057519241 0.00002
NM_001244008.2(KIF1A):c.927C>T (p.Ser309=) rs748423559 0.00002
NM_001244008.2(KIF1A):c.1063C>T (p.Arg355Cys) rs1225233710 0.00001
NM_001244008.2(KIF1A):c.1578-4G>A rs376897164 0.00001
NM_001244008.2(KIF1A):c.1670G>T (p.Arg557Met) rs773904723 0.00001
NM_001244008.2(KIF1A):c.174G>A (p.Ser58=) rs369088708 0.00001
NM_001244008.2(KIF1A):c.2100G>A (p.Glu700=) rs374701055 0.00001
NM_001244008.2(KIF1A):c.2358G>A (p.Thr786=) rs1177964009 0.00001
NM_001244008.2(KIF1A):c.2371C>T (p.Arg791Cys) rs768035823 0.00001
NM_001244008.2(KIF1A):c.2479C>T (p.Arg827Cys) rs376012799 0.00001
NM_001244008.2(KIF1A):c.2953C>T (p.Arg985Cys) rs760325615 0.00001
NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=) rs542427011 0.00001
NM_001244008.2(KIF1A):c.3594G>T (p.Arg1198Ser) rs1411100549 0.00001
NM_001244008.2(KIF1A):c.3616C>T (p.Arg1206Trp) rs772443183 0.00001
NM_001244008.2(KIF1A):c.3950A>G (p.Asn1317Ser) rs374267267 0.00001
NM_001244008.2(KIF1A):c.4496G>A (p.Arg1499Gln) rs866211603 0.00001
NM_001244008.2(KIF1A):c.4544C>T (p.Pro1515Leu) rs867230401 0.00001
NM_001244008.2(KIF1A):c.5027T>C (p.Ile1676Thr) rs372664825 0.00001
NM_001244008.2(KIF1A):c.5067C>T (p.His1689=) rs771269616 0.00001
NM_001244008.2(KIF1A):c.878A>G (p.Asn293Ser) rs747127041 0.00001
GRCh37/hg19 2q37.3(chr2:241722007-241737169)x1
NM_001244008.2(KIF1A):c.*1960G>T rs184324379
NM_001244008.2(KIF1A):c.1064G>T (p.Arg355Leu) rs373042822
NM_001244008.2(KIF1A):c.110T>C (p.Ile37Thr) rs2055352103
NM_001244008.2(KIF1A):c.1181-1G>A rs1553635398
NM_001244008.2(KIF1A):c.1208-32G>A
NM_001244008.2(KIF1A):c.1254C>T (p.Ala418=) rs2051896194
NM_001244008.2(KIF1A):c.1412G>A (p.Arg471Gln) rs754302454
NM_001244008.2(KIF1A):c.1529del (p.Pro510fs) rs1057519164
NM_001244008.2(KIF1A):c.1578-7C>G rs748724769
NM_001244008.2(KIF1A):c.1769G>A (p.Gly590Glu) rs1419828815
NM_001244008.2(KIF1A):c.1976G>A (p.Arg659His)
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.2064C>T (p.Asp688=)
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.2077C>A (p.Pro693Thr)
NM_001244008.2(KIF1A):c.2350C>T (p.Arg784Ter) rs1327297188
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=) rs201861261
NM_001244008.2(KIF1A):c.2538A>T (p.Gly846=)
NM_001244008.2(KIF1A):c.2662C>T (p.Pro888Ser)
NM_001244008.2(KIF1A):c.2678C>T (p.Pro893Leu)
NM_001244008.2(KIF1A):c.2688C>T (p.Asp896=) rs1553632633
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.275G>A (p.Cys92Tyr)
NM_001244008.2(KIF1A):c.2838C>T (p.Pro946=)
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=) rs373045276
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001244008.2(KIF1A):c.3310C>T (p.Arg1104Cys) rs986710765
NM_001244008.2(KIF1A):c.3669G>A (p.Thr1223=) rs371491091
NM_001244008.2(KIF1A):c.3698A>G (p.Lys1233Arg) rs1553629083
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_001244008.2(KIF1A):c.3905G>C (p.Arg1302Pro) rs376697478
NM_001244008.2(KIF1A):c.3931G>A (p.Glu1311Lys) rs778239281
NM_001244008.2(KIF1A):c.4208G>A (p.Arg1403His) rs537708830
NM_001244008.2(KIF1A):c.4219A>G (p.Asn1407Asp) rs2045888587
NM_001244008.2(KIF1A):c.4236G>T (p.Gly1412=) rs1398284516
NM_001244008.2(KIF1A):c.4257-6C>T rs1440735433
NM_001244008.2(KIF1A):c.4339C>T (p.Arg1447Ter) rs1057519240
NM_001244008.2(KIF1A):c.4340G>A (p.Arg1447Gln) rs1294960500
NM_001244008.2(KIF1A):c.4672C>T (p.Arg1558Cys)
NM_001244008.2(KIF1A):c.4754T>A (p.Met1585Lys) rs2125586001
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_001244008.2(KIF1A):c.5334-1_5338dup
NM_001244008.2(KIF1A):c.575T>C (p.Ile192Thr) rs2126071169
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.822G>A (p.Ser274=) rs553008418
NM_001244008.2(KIF1A):c.831C>T (p.Thr277=) rs1575624578
NM_001244008.2(KIF1A):c.893AGA[2] (p.Lys300del) rs751165127
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001244008.2(KIF1A):c.989C>A (p.Ala330Asp)

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