ClinVar Miner

List of variants in gene KIF5A studied for Hereditary spastic paraplegia 10

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Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.445+22A>G rs775322 0.41472
NM_004984.4(KIF5A):c.36+5C>T rs775249 0.25100
NM_004984.4(KIF5A):c.*163C>T rs77345621 0.02715
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_004984.4(KIF5A):c.*394A>G rs114621289 0.00866
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_004984.4(KIF5A):c.*425C>T rs180971201 0.00198
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
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.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.*317C>T rs886049701 0.00034
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
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.292-5G>A rs201917057 0.00016
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=) rs112982686 0.00014
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016 0.00014
NM_004984.4(KIF5A):c.*170T>A rs761486570 0.00013
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.2775C>A (p.Gly925=) rs759750438 0.00009
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) rs767911747 0.00008
NM_004984.4(KIF5A):c.1926G>A (p.Ser642=) rs377649745 0.00007
NM_004984.4(KIF5A):c.2955C>T (p.Gly985=) rs202074843 0.00007
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser) rs371548640 0.00006
NM_004984.4(KIF5A):c.*449C>T rs1293182616 0.00005
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln) rs554894381 0.00005
NM_004984.4(KIF5A):c.396+13C>T rs377008480 0.00005
NM_004984.4(KIF5A):c.292-14C>A rs778921032 0.00004
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu) rs140144799 0.00004
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=) rs144382702 0.00003
NM_004984.4(KIF5A):c.-45C>T rs760763129 0.00002
NM_004984.4(KIF5A):c.2120G>A (p.Arg707Gln) rs1360689553 0.00002
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.2541G>T (p.Leu847=) rs139023070 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.1082C>T (p.Ala361Val) rs121434444 0.00001
NM_004984.4(KIF5A):c.1117+4A>G rs781028681 0.00001
NM_004984.4(KIF5A):c.1476G>A (p.Glu492=) rs1227040638 0.00001
NM_004984.4(KIF5A):c.151C>T (p.Arg51Cys) rs769763596 0.00001
NM_004984.4(KIF5A):c.1570-3C>T rs1365061259 0.00001
NM_004984.4(KIF5A):c.2024-8T>G rs190187837 0.00001
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp) rs756646293 0.00001
NM_004984.4(KIF5A):c.2271C>T (p.His757=) rs374554951 0.00001
NM_004984.4(KIF5A):c.2300+7G>A rs763362184 0.00001
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His) rs777903778 0.00001
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) rs781143696 0.00001
NM_004984.4(KIF5A):c.2868_2870del (p.Leu957del) rs575223790 0.00001
NM_004984.4(KIF5A):c.291+5G>A rs775732465 0.00001
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=) rs750415265 0.00001
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys) rs756348570 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_004984.4(KIF5A):c.968+12G>C rs536186088 0.00001
NM_004984.4(KIF5A):c.*14C>T rs192586811
NM_004984.4(KIF5A):c.*326G>C rs150199729
NM_004984.4(KIF5A):c.*326G>T rs150199729
NM_004984.4(KIF5A):c.*335T>G rs1882700550
NM_004984.4(KIF5A):c.*435C>T rs886049704
NM_004984.4(KIF5A):c.*492A>T rs886049705
NM_004984.4(KIF5A):c.*86C>G rs1882692170
NM_004984.4(KIF5A):c.1045_1047del (p.Glu349del)
NM_004984.4(KIF5A):c.1079T>C (p.Ile360Thr) rs886049700
NM_004984.4(KIF5A):c.1176G>A (p.Glu392=) rs75907338
NM_004984.4(KIF5A):c.126T>G (p.Ile42Met) rs149569914
NM_004984.4(KIF5A):c.129+1G>A
NM_004984.4(KIF5A):c.1396G>T (p.Val466Phe)
NM_004984.4(KIF5A):c.1710T>G (p.Ile570Met) rs1882294516
NM_004984.4(KIF5A):c.1890G>C (p.Gln630His)
NM_004984.4(KIF5A):c.2175G>C (p.Gln725His)
NM_004984.4(KIF5A):c.217G>A (p.Asp73Asn)
NM_004984.4(KIF5A):c.2433+10G>A rs149832619
NM_004984.4(KIF5A):c.2466G>C (p.Gly822=) rs759472256
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter) rs1882578572
NM_004984.4(KIF5A):c.259C>G (p.Gln87Glu)
NM_004984.4(KIF5A):c.2950G>A (p.Gly984Ser)
NM_004984.4(KIF5A):c.395A>G (p.Lys132Arg) rs2140159183
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys) rs2140159368
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) rs748551786
NM_004984.4(KIF5A):c.501+2T>C
NM_004984.4(KIF5A):c.502-15A>T rs1882086911
NM_004984.4(KIF5A):c.515G>C (p.Arg172Pro) rs1882088063
NM_004984.4(KIF5A):c.547G>T (p.Val183Leu) rs2140161239
NM_004984.4(KIF5A):c.566C>G (p.Ser189Ter)
NM_004984.4(KIF5A):c.572G>A (p.Arg191His) rs1488871976
NM_004984.4(KIF5A):c.604A>G (p.Ser202Gly) rs1057524193
NM_004984.4(KIF5A):c.605G>A (p.Ser202Asn) rs1057519195
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.687T>A (p.Tyr229Ter) rs2140161617
NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn) rs690016545
NM_004984.4(KIF5A):c.698T>A (p.Leu233Gln) rs1594915468
NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu) rs387907289
NM_004984.4(KIF5A):c.715-9C>A rs1882156694
NM_004984.4(KIF5A):c.728G>A (p.Gly243Glu) rs2140162541
NM_004984.4(KIF5A):c.737G>T (p.Gly246Val)
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) rs387907285
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val) rs2140162576
NM_004984.4(KIF5A):c.765C>G (p.Ile255Met) rs2140162581
NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser) rs121434441
NM_004984.4(KIF5A):c.788G>A (p.Gly263Asp) rs2140162605
NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro) rs1131692233
NM_004984.4(KIF5A):c.818C>G (p.Thr273Ser) rs1882160307
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu) rs1555177824
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004984.4(KIF5A):c.854C>T (p.Thr285Ile) rs2140162883
NM_004984.4(KIF5A):c.865C>T (p.Gln289Ter)
NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp) rs1416085161
NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln) rs1404057685

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