List of variants in gene KIF5A reported as pathogenic by Paris Brain Institute, Inserm - ICM

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)	rs554894381	0.00005
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)	rs1012819766	0.00001
NM_004984.4(KIF5A):c.395A>G (p.Lys132Arg)	rs2140159183
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys)	rs2140159368
NM_004984.4(KIF5A):c.572G>A (p.Arg191His)	rs1488871976
NM_004984.4(KIF5A):c.604A>G (p.Ser202Gly)	rs1057524193
NM_004984.4(KIF5A):c.605G>A (p.Ser202Asn)	rs1057519195
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.728G>A (p.Gly243Glu)	rs2140162541
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)	rs387907285
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val)	rs2140162576
NM_004984.4(KIF5A):c.765C>G (p.Ile255Met)	rs2140162581
NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser)	rs121434441
NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu)	rs1555177824
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)	rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)	rs387907288
NM_004984.4(KIF5A):c.854C>T (p.Thr285Ile)	rs2140162883
NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp)	rs1416085161

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