ClinVar Miner

List of variants in gene KIF1A reported as likely pathogenic for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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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.1048C>T (p.Arg350Trp) rs387907259 0.00001
NM_001244008.2(KIF1A):c.2909G>A (p.Arg970His) rs201742042 0.00001
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys) rs672601365 0.00001
NM_001244008.2(KIF1A):c.1000G>A (p.Ala334Thr)
NM_001244008.2(KIF1A):c.1021A>C (p.Thr341Pro)
NM_001244008.2(KIF1A):c.1037+1G>C rs2125976529
NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)
NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn) rs2056551129
NM_001244008.2(KIF1A):c.1115T>C (p.Leu372Pro) rs2052246987
NM_001244008.2(KIF1A):c.1139G>C (p.Arg380Pro) rs759791775
NM_001244008.2(KIF1A):c.1208-2A>C
NM_001244008.2(KIF1A):c.1421+2T>A rs751051049
NM_001244008.2(KIF1A):c.153C>G (p.Ser51Arg) rs919187835
NM_001244008.2(KIF1A):c.1578-2A>G rs2125925871
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.1894C>T (p.Gln632Ter) rs2050749062
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His) rs1553633823
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.2116+1G>C rs1553633687
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001244008.2(KIF1A):c.233G>A (p.Gly78Asp) rs1575637048
NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)
NM_001244008.2(KIF1A):c.278_307del (p.Ile93_Gly102del)
NM_001244008.2(KIF1A):c.302C>T (p.Ala101Val)
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp) rs672601363
NM_001244008.2(KIF1A):c.317C>A (p.Thr106Asn) rs2055181124
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.32G>T (p.Arg11Leu) rs1575654528
NM_001244008.2(KIF1A):c.3374+2T>G rs2125791006
NM_001244008.2(KIF1A):c.3465+1G>A
NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro) rs2055064647
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_001244008.2(KIF1A):c.38G>T (p.Arg13Leu) rs797045050
NM_001244008.2(KIF1A):c.40C>A (p.Pro14Thr) rs2056558371
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu) rs879253976
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter) rs572662012
NM_001244008.2(KIF1A):c.430G>T (p.Val144Phe) rs672601364
NM_001244008.2(KIF1A):c.4319-2A>G rs1559477798
NM_001244008.2(KIF1A):c.444G>T (p.Glu148Asp) rs2054763570
NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr) rs1553638655
NM_001244008.2(KIF1A):c.470T>C (p.Leu157Pro) rs1575631836
NM_001244008.2(KIF1A):c.4868+1G>C rs1553624714
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.506G>C (p.Arg169Thr) rs876661168
NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro) rs2054755647
NM_001244008.2(KIF1A):c.556G>T (p.Val186Phe) rs2054752278
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.609-1G>A rs1559527796
NM_001244008.2(KIF1A):c.609_610delinsAAAAG (p.Thr204delinsLysAla) rs2126062809
NM_001244008.2(KIF1A):c.630G>A (p.Met210Ile)
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.647G>C (p.Arg216Pro) rs672601368
NM_001244008.2(KIF1A):c.652C>T (p.His218Tyr) rs2054549834
NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln) rs672601371
NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser) rs2054374864
NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp) rs1559526692
NM_001244008.2(KIF1A):c.756C>G (p.Ser252Arg) rs555641774
NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp) rs762126771
NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly) rs879253888
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.764C>A (p.Ala255Asp)
NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys) rs1553638086
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.798+1G>A rs1064796565
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys) rs1553637932
NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)
NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe) rs2056552812
NM_001244008.2(KIF1A):c.802G>A (p.Gly268Arg) rs1575624664
NM_001244008.2(KIF1A):c.806C>A (p.Ala269Asp)
NM_001244008.2(KIF1A):c.812T>G (p.Ile271Ser) rs2126049991
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)
NM_001244008.2(KIF1A):c.833T>C (p.Leu278Pro) rs1131692159
NM_001244008.2(KIF1A):c.839A>G (p.Lys280Arg) rs2054277617
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly) rs369692236
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.946C>T (p.Arg316Trp) rs672601370
NM_001244008.2(KIF1A):c.958+1G>C rs780380861
NM_001244008.2(KIF1A):c.961G>A (p.Gly321Ser)
NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro) rs2052422975
NM_004321.8(KIF1A):c.935C>A (p.Thr312Asn) rs779049732

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