ClinVar Miner

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

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=) rs35945835 0.03379
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=) rs2241683 0.02108
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01973
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01793
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=) rs140783695 0.00209
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=) rs201418175 0.00099
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=) rs187442951 0.00053
NM_001244008.2(KIF1A):c.138G>A (p.Thr46=) rs192880105 0.00048
NM_001244008.2(KIF1A):c.258T>C (p.Phe86=) rs183284555 0.00014
NM_001244008.2(KIF1A):c.714G>A (p.Thr238=) rs201970806 0.00013
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=) rs201733233 0.00008
NM_001244008.2(KIF1A):c.4683G>A (p.Thr1561=) rs370908366 0.00006
NM_001244008.2(KIF1A):c.609-8C>T rs775915390 0.00005
NM_001244008.2(KIF1A):c.4119C>T (p.Ile1373=) rs764237250 0.00002
NM_001244008.2(KIF1A):c.4779G>A (p.Pro1593=) rs757313706 0.00002
NM_001244008.2(KIF1A):c.231C>T (p.Ile77=) rs530669240 0.00001
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=) rs373045276
NM_001244008.2(KIF1A):c.3669G>A (p.Thr1223=) rs371491091
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882

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