ClinVar Miner

List of variants in gene KIF1A reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 71
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HGVS dbSNP
NM_001244008.1(KIF1A):c.2721_2723GGA[9] (p.Glu916_Glu917del) rs10594016
NM_004321.7(KIF1A):c.1336G>C (p.Glu446Gln) rs777894370
NM_004321.7(KIF1A):c.138G>A (p.Thr46=) rs192880105
NM_004321.7(KIF1A):c.1476A>G (p.Pro492=) rs35663732
NM_004321.7(KIF1A):c.1636G>A (p.Asp546Asn) rs375972461
NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_004321.7(KIF1A):c.1835C>T (p.Thr612Met) rs760338913
NM_004321.7(KIF1A):c.1871G>A (p.Arg624His) rs1553633823
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.2105G>A (p.Arg702Gln) rs774604596
NM_004321.7(KIF1A):c.2208C>T (p.Ala736=) rs35945835
NM_004321.7(KIF1A):c.231C>T (p.Ile77=) rs530669240
NM_004321.7(KIF1A):c.234C>T (p.Gly78=) rs61744930
NM_004321.7(KIF1A):c.2358C>T (p.Ala786=) rs62637652
NM_004321.7(KIF1A):c.2448C>T (p.Tyr816=) rs199996308
NM_004321.7(KIF1A):c.2505C>T (p.Thr835=) rs370648599
NM_004321.7(KIF1A):c.258T>C (p.Phe86=) rs183284555
NM_004321.7(KIF1A):c.2595C>G (p.Pro865=) rs140783695
NM_004321.7(KIF1A):c.2651G>A (p.Arg884His) rs772779524
NM_004321.7(KIF1A):c.2655G>C (p.Val885=) rs186881889
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) rs116297894
NM_004321.7(KIF1A):c.2769C>T (p.Ser923=) rs73102625
NM_004321.7(KIF1A):c.2801C>T (p.Ser934Leu) rs764873243
NM_004321.7(KIF1A):c.2899+10C>A rs190997558
NM_004321.7(KIF1A):c.2916_2918CCT[2] (p.Leu975del) rs1167417315
NM_004321.7(KIF1A):c.2943C>T (p.Ala981=) rs368682964
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.2979C>T (p.His993=) rs35664935
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.311C>T (p.Ser104Phe) rs1553639010
NM_004321.7(KIF1A):c.3165C>T (p.Ile1055=) rs201981364
NM_004321.7(KIF1A):c.3338-8C>T rs56024577
NM_004321.7(KIF1A):c.3365C>T (p.Thr1122Met) rs374873057
NM_004321.7(KIF1A):c.3585C>T (p.Arg1195=) rs144520412
NM_004321.7(KIF1A):c.3595G>A (p.Val1199Met) rs797045652
NM_004321.7(KIF1A):c.3701A>G (p.Asp1234Gly) rs747271930
NM_004321.7(KIF1A):c.3816C>T (p.Ile1272=) rs764237250
NM_004321.7(KIF1A):c.3840G>A (p.Pro1280=) rs2241683
NM_004321.7(KIF1A):c.3914G>A (p.Arg1305His) rs755301795
NM_004321.7(KIF1A):c.393C>T (p.Asn131=) rs35139906
NM_004321.7(KIF1A):c.4016-8C>T rs1529663
NM_004321.7(KIF1A):c.408C>G (p.Asp136Glu) rs761179236
NM_004321.7(KIF1A):c.4282G>A (p.Ala1428Thr) rs572923181
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4335C>T (p.Asn1445=) rs771217469
NM_004321.7(KIF1A):c.4362+4G>C rs772449700
NM_004321.7(KIF1A):c.4413C>T (p.His1471=) rs375640417
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004321.7(KIF1A):c.4475C>T (p.Pro1492Leu) rs200902828
NM_004321.7(KIF1A):c.4476G>A (p.Pro1492=) rs757313706
NM_004321.7(KIF1A):c.4478C>T (p.Ser1493Leu) rs201825284
NM_004321.7(KIF1A):c.4509C>A (p.Thr1503=) rs76974316
NM_004321.7(KIF1A):c.4572G>A (p.Pro1524=) rs201418175
NM_004321.7(KIF1A):c.4624G>A (p.Asp1542Asn) rs200141437
NM_004321.7(KIF1A):c.4668C>A (p.Asp1556Glu) rs184939069
NM_004321.7(KIF1A):c.4714G>A (p.Val1572Ile) rs774256831
NM_004321.7(KIF1A):c.4718+1G>C rs797045653
NM_004321.7(KIF1A):c.4740G>A (p.Gly1580=) rs143815273
NM_004321.7(KIF1A):c.4761G>A (p.Pro1587=) rs527977882
NM_004321.7(KIF1A):c.4767G>A (p.Thr1589=) rs201733233
NM_004321.7(KIF1A):c.4789G>A (p.Val1597Met) rs769279843
NM_004321.7(KIF1A):c.5019C>T (p.Ala1673=) rs745898229
NM_004321.7(KIF1A):c.560C>T (p.Thr187Ile) rs370623844
NM_004321.7(KIF1A):c.609-8C>T rs775915390
NM_004321.7(KIF1A):c.666C>T (p.Asn222=) rs797045654
NM_004321.7(KIF1A):c.714G>A (p.Thr238=) rs201970806
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_004321.7(KIF1A):c.849C>T (p.Ser283=) rs187442951
NM_004321.7(KIF1A):c.883-3C>T rs111507743
NM_004321.7(KIF1A):c.919C>G (p.Arg307Gly) rs369692236
NM_004321.7(KIF1A):c.991T>C (p.Leu331=) rs1063353

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