List of variants in gene KIF5A reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004984.4(KIF5A):c.1378C>T (p.Arg460Ter)	rs1882272161
NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter)	rs185438769
NM_004984.4(KIF5A):c.2811del (p.Thr938fs)	rs1882598771
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)	rs748551786
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)	rs387907287
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)	rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)	rs387907288

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