ClinVar Miner

List of variants in gene KIF1A reported as pathogenic by Invitae

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Gene type:
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Total variants: 59
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HGVS dbSNP gnomAD frequency
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.2840del (p.Leu947fs) rs587778791 0.00001
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys) rs672601365 0.00001
NM_001244008.2(KIF1A):c.919C>T (p.Arg307Ter) rs369692236 0.00001
NC_000002.11:g.(?_241656771)_241759735del
NC_000002.11:g.(?_241676460)_(241686758_?)del
NC_000002.12:g.(?_240717364)_(240797752_?)del
NM_001244008.2(KIF1A):c.1031C>T (p.Thr344Met) rs2125976585
NM_001244008.2(KIF1A):c.10del (p.Ala4fs) rs2056562900
NM_001244008.2(KIF1A):c.1114C>G (p.Leu372Val)
NM_001244008.2(KIF1A):c.1693dup (p.Thr565fs)
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.200dup (p.Tyr67Ter)
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
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.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.296C>T (p.Thr99Met) rs387906799
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_001244008.2(KIF1A):c.3074_3075dup (p.Cys1027fs)
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.361C>T (p.Gln121Ter) rs1318848388
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.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.4624del (p.Leu1542fs) rs2125597503
NM_001244008.2(KIF1A):c.467A>T (p.Asp156Val) rs2126071766
NM_001244008.2(KIF1A):c.4700_4701del (p.Glu1567fs)
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.646C>T (p.Arg216Cys) rs797045164
NM_001244008.2(KIF1A):c.737T>G (p.Leu246Arg) rs1575626071
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.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.785_798+1del rs2126054169
NM_001244008.2(KIF1A):c.798+2T>G
NM_001244008.2(KIF1A):c.799G>C (p.Glu267Gln) rs1553637932
NM_001244008.2(KIF1A):c.803G>A (p.Gly268Glu) rs1057518226
NM_001244008.2(KIF1A):c.805del (p.Ala269fs)
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.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.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

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