ClinVar Miner

List of variants in gene KIF5A reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.2910-83A>G rs775247 0.99188
NM_004984.4(KIF5A):c.2993-217G>A rs809593 0.89528
NM_004984.4(KIF5A):c.1717-129G>A rs11172254 0.45208
NM_004984.4(KIF5A):c.714+93T>C rs10783832 0.44388
NM_004984.4(KIF5A):c.714+161A>G rs10783833 0.44255
NM_004984.4(KIF5A):c.445+22A>G rs775322 0.41472
NM_004984.4(KIF5A):c.1717-152C>G rs1678542 0.41355
NM_004984.4(KIF5A):c.3020+235C>G rs2888334 0.27833
NM_004984.4(KIF5A):c.2992+218G>C rs10783834 0.27821
NM_004984.4(KIF5A):c.36+42C>A rs775250 0.25466
NM_004984.4(KIF5A):c.2992+175C>G rs775248 0.25365
NM_004984.4(KIF5A):c.36+5C>T rs775249 0.25100
NM_004984.4(KIF5A):c.2993-267A>G rs11172256 0.19121
NM_004984.4(KIF5A):c.2539-69G>A rs775245 0.12403
NM_004984.4(KIF5A):c.819+94G>C rs2620678 0.03641
NM_004984.4(KIF5A):c.129+310C>T rs73346031 0.02913
NM_004984.4(KIF5A):c.445+73A>G rs75527218 0.02640
NC_000012.12:g.57549736C>T rs79749420 0.02376
NM_004984.4(KIF5A):c.292-170G>A rs115447581 0.01971
NM_004984.4(KIF5A):c.1716+286G>A rs113973631 0.01951
NM_004984.4(KIF5A):c.502-258C>T rs141016935 0.01775
NM_004984.4(KIF5A):c.501+43A>C rs77884162 0.01293
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_004984.4(KIF5A):c.3021-55T>C rs189141503 0.01060
NM_004984.4(KIF5A):c.1569+119G>A rs111481780 0.00883
NM_004984.4(KIF5A):c.1906-143T>A rs76164219 0.00882
NM_004984.4(KIF5A):c.2023+18C>T rs192960012 0.00832
NM_004984.4(KIF5A):c.1294-173T>C rs143272215 0.00771
NM_004984.4(KIF5A):c.1362+125T>C rs116317869 0.00767
NM_004984.4(KIF5A):c.714+200G>A rs149354963 0.00760
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_004984.4(KIF5A):c.292-42C>T rs148481427 0.00713
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_004984.4(KIF5A):c.502-59A>G rs117149568 0.00672
NM_004984.4(KIF5A):c.501+307G>A rs140470142 0.00584
NM_004984.4(KIF5A):c.*36+164G>T rs114224724 0.00558
NM_004984.4(KIF5A):c.1569+21C>G rs114115696 0.00558
NM_004984.4(KIF5A):c.2198+190A>T rs114284372 0.00556
NM_004984.4(KIF5A):c.292-173A>G rs114419475 0.00556
NM_004984.4(KIF5A):c.1905+126G>A rs114614349 0.00555
NM_004984.4(KIF5A):c.2198+189G>T rs115809275 0.00555
NM_004984.4(KIF5A):c.2993-302C>T rs115689942 0.00555
NM_004984.4(KIF5A):c.820-82C>T rs116892071 0.00477
NM_004984.4(KIF5A):c.2993-293G>C rs148806802 0.00445
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_004984.4(KIF5A):c.2024-106T>C rs536469610 0.00326
NM_004984.4(KIF5A):c.446-18T>C rs188999300 0.00237
NM_004984.4(KIF5A):c.2088+21G>A rs200230112 0.00225
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_004984.4(KIF5A):c.714+8G>A rs199624091 0.00101
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) rs113155897 0.00100
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678 0.00074
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_004984.4(KIF5A):c.1716+51C>T rs373997459 0.00064
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.2403C>T (p.Phe801=) rs149934878 0.00054
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
NM_004984.4(KIF5A):c.1363-22A>T rs373198221 0.00024
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=) rs147057295 0.00019
NM_004984.4(KIF5A):c.129+9C>T rs372131378 0.00016
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788 0.00016
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016 0.00014
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00010
NM_004984.4(KIF5A):c.2775C>A (p.Gly925=) rs759750438 0.00009
NM_004984.4(KIF5A):c.2262C>T (p.Ser754=) rs143260492 0.00007
NM_004984.4(KIF5A):c.715-20A>G rs201888198 0.00006
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.1118-41T>G rs376582946 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.861T>C (p.Ile287=) rs1283311048 0.00003
NM_004984.4(KIF5A):c.1287C>T (p.Asp429=) rs760382029 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.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.2655C>T (p.Gly885=) rs1007236664 0.00002
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_004984.4(KIF5A):c.-13G>A rs375902978 0.00001
NM_004984.4(KIF5A):c.1218G>C (p.Val406=) rs758977709 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.1896C>T (p.Leu632=) rs1161979577 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.2539-13G>A rs1057523621 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_004984.4(KIF5A):c.291+15T>C rs764730335 0.00001
NM_004984.4(KIF5A):c.2993-6C>T rs1057522322 0.00001
NM_004984.4(KIF5A):c.*36+95del rs35104895
NM_004984.4(KIF5A):c.*36+95dup rs35104895
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.1176G>A (p.Glu392=) rs75907338
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.1771A>G (p.Ile591Val)
NM_004984.4(KIF5A):c.1793T>C (p.Val598Ala)
NM_004984.4(KIF5A):c.1811G>A (p.Arg604Gln) rs931757596
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.2198+19G>T rs932182752
NM_004984.4(KIF5A):c.263C>T (p.Thr88Ile)
NM_004984.4(KIF5A):c.2659A>T (p.Met887Leu)
NM_004984.4(KIF5A):c.269C>T (p.Ser90Leu) rs1060502524
NM_004984.4(KIF5A):c.2756-43A>C rs775246
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
NM_004984.4(KIF5A):c.292-4C>A rs760970894
NM_004984.4(KIF5A):c.2960T>C (p.Leu987Ser)
NM_004984.4(KIF5A):c.2992+100C>A rs111792924
NM_004984.4(KIF5A):c.2992+137dup rs1013090932
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys) rs1060502523
NM_004984.4(KIF5A):c.3070C>T (p.Pro1024Ser)
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447
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.587C>T (p.Thr196Ile) rs2140161296
NM_004984.4(KIF5A):c.598G>A (p.Glu200Lys) rs879254292
NM_004984.4(KIF5A):c.604A>C (p.Ser202Arg) rs1057524193
NM_004984.4(KIF5A):c.608C>T (p.Ser203Phe) rs2140161563
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004984.4(KIF5A):c.65C>T (p.Ala22Val) rs745558435
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro) rs1594915468
NM_004984.4(KIF5A):c.714+282dup rs538379606
NM_004984.4(KIF5A):c.714+58_714+60dup rs371727146
NM_004984.4(KIF5A):c.714+59_714+60del rs371727146
NM_004984.4(KIF5A):c.714+59_714+60dup rs371727146
NM_004984.4(KIF5A):c.714+60del rs371727146
NM_004984.4(KIF5A):c.714+60dup rs371727146
NM_004984.4(KIF5A):c.715-225del rs558633353
NM_004984.4(KIF5A):c.715-225dup rs558633353
NM_004984.4(KIF5A):c.715-323G>T rs142538303
NM_004984.4(KIF5A):c.76C>T (p.Arg26Trp)
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004984.4(KIF5A):c.847A>G (p.Lys283Glu) rs1057523746
NM_004984.4(KIF5A):c.959T>G (p.Phe320Cys) rs2140162988
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln) rs2140163000

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