ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) rs375693647 0.00003
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp) rs201098122 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.2740C>T (p.His914Tyr) rs771687270 0.00001
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) rs1064797169
NM_004984.4(KIF5A):c.1717-6C>T rs61935711
NM_004984.4(KIF5A):c.178G>C (p.Glu60Gln) rs1881973323
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.2540T>A (p.Leu847Gln) rs1594925728
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.574C>T (p.His192Tyr) rs1565697656
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.722A>G (p.Lys241Arg) rs2140162538
NM_004984.4(KIF5A):c.785T>C (p.Leu262Pro) rs1594916694

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