ClinVar Miner

List of variants in gene KIF1A reported as pathogenic

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Gene type:
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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp) rs545501989 0.00001
NM_001244008.2(KIF1A):c.1954C>T (p.Gln652Ter) rs748477031 0.00001
NM_001244008.2(KIF1A):c.217G>T (p.Val73Leu) rs770463399 0.00001
NM_001244008.2(KIF1A):c.2357C>T (p.Thr786Met) rs766807173 0.00001
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) rs587778791 0.00001
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys) rs672601365 0.00001
NM_001244008.2(KIF1A):c.890A>G (p.Lys297Arg) rs1250934752 0.00001
NM_001244008.2(KIF1A):c.919C>T (p.Arg307Ter) rs369692236 0.00001
NC_000002.11:g.(241689965_241696735)_(241700261_241700645)del
NC_000002.11:g.(241723234_241724405)_(241737230_241759538)del
NC_000002.11:g.(?_241656771)_241759735del
NC_000002.11:g.(?_241656780)_(241737170_?)del
NC_000002.11:g.(?_241676460)_(241686758_?)del
NC_000002.12:g.(?_240717364)_(240797752_?)del
NM_001244008.2(KIF1A):c.1001C>T (p.Ala334Val) rs2125976763
NM_001244008.2(KIF1A):c.1013A>G (p.Tyr338Cys) rs2125976707
NM_001244008.2(KIF1A):c.1031C>T (p.Thr344Met) rs2125976585
NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys) rs879254004
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_001244008.2(KIF1A):c.10del (p.Ala4fs) rs2056562900
NM_001244008.2(KIF1A):c.1114C>G (p.Leu372Val)
NM_001244008.2(KIF1A):c.1214dup (p.Asn405fs) rs1575600733
NM_001244008.2(KIF1A):c.1529del (p.Pro510fs) rs1057519164
NM_001244008.2(KIF1A):c.1685-1G>C
NM_001244008.2(KIF1A):c.1693dup (p.Thr565fs)
NM_001244008.2(KIF1A):c.173C>G (p.Ser58Trp) rs672601362
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.183+293_798+287del
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter) rs2050749062
NM_001244008.2(KIF1A):c.200dup (p.Tyr67Ter)
NM_001244008.2(KIF1A):c.206C>G (p.Ser69Trp) rs786200949
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.222_223insGAC (p.Tyr74_Arg75insAsp) rs1064796046
NM_001244008.2(KIF1A):c.2270_2271del (p.Gln757fs) rs2125890780
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001244008.2(KIF1A):c.232G>C (p.Gly78Arg) rs1057518760
NM_001244008.2(KIF1A):c.2350C>T (p.Arg784Ter) rs1327297188
NM_001244008.2(KIF1A):c.2389G>T (p.Glu797Ter) rs2125889990
NM_001244008.2(KIF1A):c.2451del (p.Leu818fs)
NM_001244008.2(KIF1A):c.254C>A (p.Ala85Asp) rs1553639041
NM_001244008.2(KIF1A):c.2582+1G>A rs2125874950
NM_001244008.2(KIF1A):c.265T>G (p.Tyr89Asp) rs869312711
NM_001244008.2(KIF1A):c.275G>A (p.Cys92Tyr)
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_001244008.2(KIF1A):c.3073del (p.Glu1025fs) rs2125794023
NM_001244008.2(KIF1A):c.3074_3075dup (p.Cys1027fs)
NM_001244008.2(KIF1A):c.308A>C (p.Lys103Thr) rs1553639011
NM_001244008.2(KIF1A):c.311C>T (p.Ser104Phe) rs1553639010
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.350G>A (p.Gly117Asp) rs1200817308
NM_001244008.2(KIF1A):c.350G>T (p.Gly117Val) rs1200817308
NM_001244008.2(KIF1A):c.361C>T (p.Gln121Ter) rs1318848388
NM_001244008.2(KIF1A):c.3661del (p.Thr1221fs)
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter) rs572662012
NM_001244008.2(KIF1A):c.4324C>T (p.Gln1442Ter)
NM_001244008.2(KIF1A):c.4339C>T (p.Arg1447Ter) rs1057519240
NM_001244008.2(KIF1A):c.4529del (p.Pro1510fs) rs2125598333
NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr) rs1553638655
NM_001244008.2(KIF1A):c.4624del (p.Leu1542fs) rs2125597503
NM_001244008.2(KIF1A):c.4645_4660del (p.Gln1549fs)
NM_001244008.2(KIF1A):c.467A>T (p.Asp156Val) rs2126071766
NM_001244008.2(KIF1A):c.4700_4701del (p.Glu1567fs)
NM_001244008.2(KIF1A):c.4869-2A>C rs2125575723
NM_001244008.2(KIF1A):c.4981C>T (p.Gln1661Ter) rs1575514086
NM_001244008.2(KIF1A):c.5005C>T (p.Gln1669Ter)
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.5014C>T (p.Arg1672Ter)
NM_001244008.2(KIF1A):c.506G>A (p.Arg169Lys) rs876661168
NM_001244008.2(KIF1A):c.512A>C (p.His171Pro) rs876661180
NM_001244008.2(KIF1A):c.521T>C (p.Leu174Pro) rs2126071436
NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs) rs587778798
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001244008.2(KIF1A):c.631A>C (p.Asn211His)
NM_001244008.2(KIF1A):c.631A>G (p.Asn211Asp)
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.644G>A (p.Ser215Asn) rs2126062641
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.650C>G (p.Ser217Cys) rs876661202
NM_001244008.2(KIF1A):c.653A>G (p.His218Arg) rs2126062571
NM_001244008.2(KIF1A):c.658G>T (p.Val220Phe) rs201314877
NM_001244008.2(KIF1A):c.737T>G (p.Leu246Arg) rs1575626071
NM_001244008.2(KIF1A):c.742G>A (p.Asp248Asn) rs2126054501
NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro) rs672601371
NM_001244008.2(KIF1A):c.751G>A (p.Gly251Arg)
NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
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.761G>C (p.Arg254Pro) rs886041692
NM_001244008.2(KIF1A):c.764C>T (p.Ala255Val) rs387906798
NM_001244008.2(KIF1A):c.76T>C (p.Cys26Arg) rs2126147743
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.785_798+1del rs2126054169
NM_001244008.2(KIF1A):c.798+1G>A rs1064796565
NM_001244008.2(KIF1A):c.798+1G>C
NM_001244008.2(KIF1A):c.798+2T>C rs2126054153
NM_001244008.2(KIF1A):c.798+2T>G
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys) rs1553637932
NM_001244008.2(KIF1A):c.799G>C (p.Glu267Gln) rs1553637932
NM_001244008.2(KIF1A):c.801G>T (p.Glu267Asp) rs2126050077
NM_001244008.2(KIF1A):c.803G>A (p.Gly268Glu) rs1057518226
NM_001244008.2(KIF1A):c.805del (p.Ala269fs)
NM_001244008.2(KIF1A):c.812_817del (p.Ile271_Asn272del)
NM_001244008.2(KIF1A):c.813CAA[1] (p.Asn272del) rs2054280202
NM_001244008.2(KIF1A):c.815A>G (p.Asn272Ser) rs876661283
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.835G>C (p.Gly279Arg)
NM_001244008.2(KIF1A):c.841G>C (p.Val281Leu) rs2126049787
NM_001244008.2(KIF1A):c.864+1del rs2126049633
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro) rs1064793161
NM_001244008.2(KIF1A):c.934A>C (p.Thr312Pro) rs2052660081
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.991_992delinsCC (p.Leu331Pro) rs2125976792

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