List of variants in gene KIF5A reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)	rs1012819766	0.00001
NM_004984.4(KIF5A):c.2310C>G (p.Tyr770Ter)	rs919085412
NM_004984.4(KIF5A):c.2613_2614del (p.Arg871fs)	rs1882579168
NM_004984.4(KIF5A):c.2755+1G>T	rs1882585452
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly)	rs1555179087
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys)	rs1060502523
NM_004984.4(KIF5A):c.397-2A>G	rs2140159358
NM_004984.4(KIF5A):c.532G>T (p.Glu178Ter)	rs2140161227
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.611G>A (p.Arg204Gln)	rs387907287
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro)	rs1594915468
NM_004984.4(KIF5A):c.753G>C (p.Glu251Asp)
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)	rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)	rs121434442
NM_004984.4(KIF5A):c.847A>G (p.Lys283Glu)	rs1057523746
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln)	rs2140163000

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