List of variants in gene KIF5A reported as 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: 13

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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.1378C>T (p.Arg460Ter)	rs1882272161
NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter)	rs185438769
NM_004984.4(KIF5A):c.1858G>T (p.Glu620Ter)	rs2140167500
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter)	rs1555178616
NM_004984.4(KIF5A):c.263C>T (p.Thr88Ile)
NM_004984.4(KIF5A):c.2811del (p.Thr938fs)	rs1882598771
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)	rs748551786
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.751G>A (p.Glu251Lys)	rs387907285
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)	rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)	rs387907288

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