ClinVar Miner

List of variants in gene KIF5A reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) rs748402153 0.00012
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00010
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634 0.00010
NM_004984.4(KIF5A):c.1283T>G (p.Leu428Arg) rs370132723 0.00004
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) rs144277716 0.00004
NM_004984.4(KIF5A):c.2971C>A (p.Gln991Lys) rs1057520171 0.00003
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg) rs758987045 0.00003
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) rs375693647 0.00003
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met) rs774586838 0.00002
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp) rs748248329 0.00002
NM_004984.4(KIF5A):c.2006C>A (p.Ala669Asp) rs753975521 0.00002
NM_004984.4(KIF5A):c.217+5T>C rs1321172885 0.00002
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.2282C>G (p.Thr761Ser) rs1271325672 0.00002
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp) rs201098122 0.00002
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00002
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) rs755457098 0.00002
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) rs121434444 0.00001
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=) rs770297402 0.00001
NM_004984.4(KIF5A):c.1735G>A (p.Ala579Thr) rs760135493 0.00001
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter) rs1555178348 0.00001
NM_004984.4(KIF5A):c.1842G>C (p.Glu614Asp) rs757985743 0.00001
NM_004984.4(KIF5A):c.1849C>T (p.Arg617Cys) rs202045039 0.00001
NM_004984.4(KIF5A):c.1867G>A (p.Gly623Arg) rs1882386176 0.00001
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) rs757751684 0.00001
NM_004984.4(KIF5A):c.236A>G (p.Asn79Ser) rs1299838179 0.00001
NM_004984.4(KIF5A):c.2452G>A (p.Glu818Lys) rs766050696 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_004984.4(KIF5A):c.2740C>T (p.His914Tyr) rs771687270 0.00001
NM_004984.4(KIF5A):c.2993-6C>T rs1057522322 0.00001
NM_004984.4(KIF5A):c.52C>T (p.Pro18Ser) rs770302674 0.00001
NM_004984.4(KIF5A):c.1153G>A (p.Glu385Lys) rs753854351
NM_004984.4(KIF5A):c.1156G>A (p.Glu386Lys)
NM_004984.4(KIF5A):c.1156G>C (p.Glu386Gln) rs1052752751
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) rs1064797169
NM_004984.4(KIF5A):c.1261A>C (p.Ile421Leu)
NM_004984.4(KIF5A):c.1293+5G>A
NM_004984.4(KIF5A):c.1341G>T (p.Gln447His)
NM_004984.4(KIF5A):c.1352A>C (p.Asp451Ala) rs2140164755
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_004984.4(KIF5A):c.1372T>G (p.Ser458Ala) rs886042524
NM_004984.4(KIF5A):c.1429A>G (p.Asn477Asp) rs1882274569
NM_004984.4(KIF5A):c.1480C>T (p.Leu494=)
NM_004984.4(KIF5A):c.1569+5G>A rs2140165311
NM_004984.4(KIF5A):c.1717-6C>T rs61935711
NM_004984.4(KIF5A):c.1771A>G (p.Ile591Val)
NM_004984.4(KIF5A):c.178G>C (p.Glu60Gln) rs1881973323
NM_004984.4(KIF5A):c.1793T>C (p.Val598Ala)
NM_004984.4(KIF5A):c.1811G>A (p.Arg604Gln) rs931757596
NM_004984.4(KIF5A):c.1817G>A (p.Arg606Gln)
NM_004984.4(KIF5A):c.1921C>T (p.Arg641Cys)
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
NM_004984.4(KIF5A):c.2124G>T (p.Glu708Asp) rs1224244947
NM_004984.4(KIF5A):c.2126C>T (p.Ala709Val) rs368671947
NM_004984.4(KIF5A):c.2162T>G (p.Ile721Ser) rs879254299
NM_004984.4(KIF5A):c.2174A>C (p.Gln725Pro) rs879254315
NM_004984.4(KIF5A):c.2185G>C (p.Asp729His) rs1594922826
NM_004984.4(KIF5A):c.2301-3C>T rs1594923747
NM_004984.4(KIF5A):c.233A>G (p.Tyr78Cys) rs2140158848
NM_004984.4(KIF5A):c.2517G>T (p.Gln839His)
NM_004984.4(KIF5A):c.2540T>A (p.Leu847Gln) rs1594925728
NM_004984.4(KIF5A):c.2628G>A (p.Glu876=)
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser) rs1017745641
NM_004984.4(KIF5A):c.2659A>T (p.Met887Leu)
NM_004984.4(KIF5A):c.269C>T (p.Ser90Leu) rs1060502524
NM_004984.4(KIF5A):c.2722A>C (p.Ser908Arg) rs2140171539
NM_004984.4(KIF5A):c.2764G>A (p.Val922Ile) rs763041798
NM_004984.4(KIF5A):c.2804C>T (p.Pro935Leu) rs1272664645
NM_004984.4(KIF5A):c.2813C>T (p.Thr938Ile)
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
NM_004984.4(KIF5A):c.2902_2903delinsTT (p.Asp968Phe)
NM_004984.4(KIF5A):c.2960T>C (p.Leu987Ser)
NM_004984.4(KIF5A):c.297G>T (p.Lys99Asn)
NM_004984.4(KIF5A):c.3070C>T (p.Pro1024Ser)
NM_004984.4(KIF5A):c.3089C>A (p.Ala1030Glu) rs1206507768
NM_004984.4(KIF5A):c.3091G>C (p.Ala1031Pro) rs749631031
NM_004984.4(KIF5A):c.472G>A (p.Glu158Lys)
NM_004984.4(KIF5A):c.49C>T (p.Arg17Trp) rs2140150123
NM_004984.4(KIF5A):c.502-1G>C rs2140161193
NM_004984.4(KIF5A):c.515G>A (p.Arg172His) rs1882088063
NM_004984.4(KIF5A):c.526A>G (p.Ser176Gly)
NM_004984.4(KIF5A):c.551T>C (p.Ile184Thr) rs1882089233
NM_004984.4(KIF5A):c.574C>T (p.His192Tyr) rs1565697656
NM_004984.4(KIF5A):c.586A>G (p.Thr196Ala) rs1565697675
NM_004984.4(KIF5A):c.587C>T (p.Thr196Ile) rs2140161296
NM_004984.4(KIF5A):c.590-3C>T rs1882102799
NM_004984.4(KIF5A):c.598G>A (p.Glu200Lys) rs879254292
NM_004984.4(KIF5A):c.605G>C (p.Ser202Thr) rs1057519195
NM_004984.4(KIF5A):c.642_643delinsTA (p.Lys214_Gln215delinsAsnLys) rs2140161594
NM_004984.4(KIF5A):c.65C>T (p.Ala22Val) rs745558435
NM_004984.4(KIF5A):c.722A>G (p.Lys241Arg) rs2140162538
NM_004984.4(KIF5A):c.764T>C (p.Ile255Thr) rs2140162579
NM_004984.4(KIF5A):c.76C>T (p.Arg26Trp)
NM_004984.4(KIF5A):c.785T>C (p.Leu262Pro) rs1594916694
NM_004984.4(KIF5A):c.911G>A (p.Cys304Tyr) rs2140162947
NM_004984.4(KIF5A):c.959T>G (p.Phe320Cys) rs2140162988

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