ClinVar Miner

List of variants in gene KIF1A reported by Paris Brain Institute, Inserm - ICM

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.882+8G>A rs376552408 0.00019
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001244008.2(KIF1A):c.217G>T (p.Val73Leu) rs770463399 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
NC_000002.11:g.(241689965_241696735)_(241700261_241700645)del
NC_000002.11:g.(?_241656780)_(241737170_?)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.1498-3C>A rs1191854158
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
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.232G>A (p.Gly78Ser) rs1057518760
NM_001244008.2(KIF1A):c.232G>C (p.Gly78Arg) rs1057518760
NM_001244008.2(KIF1A):c.2582+1G>A rs2125874950
NM_001244008.2(KIF1A):c.2750_2751insTGAGGAGGAGGA (p.Glu916_Glu917insAspGluGluGlu) rs878988727
NM_001244008.2(KIF1A):c.311C>T (p.Ser104Phe) rs1553639010
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.521T>C (p.Leu174Pro) rs2126071436
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.658G>T (p.Val220Phe) rs201314877
NM_001244008.2(KIF1A):c.742G>A (p.Asp248Asn) rs2126054501
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.798+2T>C rs2126054153
NM_001244008.2(KIF1A):c.801G>T (p.Glu267Asp) rs2126050077
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.841G>C (p.Val281Leu) rs2126049787
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001244008.2(KIF1A):c.991_992delinsCC (p.Leu331Pro) rs2125976792

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