ClinVar Miner

List of variants in gene KIF5A reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
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.2412C>T (p.Asp804=) rs145062338 0.00038
NM_004984.4(KIF5A):c.60C>T (p.Asn20=) rs200876187 0.00021
NM_004984.4(KIF5A):c.2832C>T (p.Ile944=) rs114935472 0.00020
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.2775C>A (p.Gly925=) rs759750438 0.00009
NM_004984.4(KIF5A):c.1740C>T (p.Ile580=) rs149622711 0.00008
NM_004984.4(KIF5A):c.801C>T (p.Ser267=) rs368628303 0.00008
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser) rs371548640 0.00006
NM_004984.4(KIF5A):c.2781C>T (p.Tyr927=) rs767928175 0.00004
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=) rs144382702 0.00003
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) rs375693647 0.00003
NM_004984.4(KIF5A):c.1995C>T (p.Ser665=) rs368783789 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.1611G>A (p.Gln537=) rs756959491 0.00001
NM_004984.4(KIF5A):c.2271C>T (p.His757=) rs374554951 0.00001
NM_004984.4(KIF5A):c.2740C>T (p.His914Tyr) rs771687270 0.00001
NM_004984.4(KIF5A):c.465C>T (p.Ser155=) rs747071818 0.00001
NM_004984.4(KIF5A):c.672C>T (p.Leu224=) rs770896632 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_004984.4(KIF5A):c.*326G>T rs150199729
NM_004984.4(KIF5A):c.*421C>T rs1005821727
NM_004984.4(KIF5A):c.1065C>G (p.Ala355=) rs2140163267
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) rs1064797169
NM_004984.4(KIF5A):c.1209A>C (p.Ser403=)
NM_004984.4(KIF5A):c.147T>C (p.Phe49=)
NM_004984.4(KIF5A):c.1521G>A (p.Glu507=) rs1882277764
NM_004984.4(KIF5A):c.1717-6C>T rs61935711
NM_004984.4(KIF5A):c.178G>C (p.Glu60Gln) rs1881973323
NM_004984.4(KIF5A):c.1858G>T (p.Glu620Ter) rs2140167500
NM_004984.4(KIF5A):c.1938C>T (p.Tyr646=)
NM_004984.4(KIF5A):c.2124G>T (p.Glu708Asp) rs1224244947
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.252T>C (p.Ala84=) rs1340159221
NM_004984.4(KIF5A):c.2540T>A (p.Leu847Gln) rs1594925728
NM_004984.4(KIF5A):c.2604G>A (p.Thr868=)
NM_004984.4(KIF5A):c.2628G>A (p.Glu876=)
NM_004984.4(KIF5A):c.2764G>A (p.Val922Ile) rs763041798
NM_004984.4(KIF5A):c.2813C>T (p.Thr938Ile)
NM_004984.4(KIF5A):c.2902_2903delinsTT (p.Asp968Phe)
NM_004984.4(KIF5A):c.297G>T (p.Lys99Asn)
NM_004984.4(KIF5A):c.2991T>C (p.Asn997=) rs1236506833
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly) rs1555179087
NM_004984.4(KIF5A):c.3020+215C>G
NM_004984.4(KIF5A):c.3020+42C>T
NM_004984.4(KIF5A):c.303C>T (p.His101=) rs769191561
NM_004984.4(KIF5A):c.532G>T (p.Glu178Ter) rs2140161227
NM_004984.4(KIF5A):c.574C>T (p.His192Tyr) rs1565697656
NM_004984.4(KIF5A):c.605G>C (p.Ser202Thr) rs1057519195
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_004984.4(KIF5A):c.642_643delinsTA (p.Lys214_Gln215delinsAsnLys) rs2140161594
NM_004984.4(KIF5A):c.722A>G (p.Lys241Arg) rs2140162538
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) rs387907285
NM_004984.4(KIF5A):c.753G>C (p.Glu251Asp)
NM_004984.4(KIF5A):c.785T>C (p.Leu262Pro) rs1594916694
NM_004984.4(KIF5A):c.819T>C (p.Thr273=)
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442

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