List of variants in gene KIF1A reported as likely pathogenic by Invitae

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)	rs387907259	0.00001
NM_001244008.2(KIF1A):c.1037+1G>C	rs2125976529
NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)
NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)
NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn)	rs2056551129
NM_001244008.2(KIF1A):c.1208-2A>C
NM_001244008.2(KIF1A):c.1421+2T>A	rs751051049
NM_001244008.2(KIF1A):c.1578-2A>G	rs2125925871
NM_001244008.2(KIF1A):c.173C>G (p.Ser58Trp)	rs672601362
NM_001244008.2(KIF1A):c.2116+1G>C	rs1553633687
NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)
NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu)	rs1575654528
NM_001244008.2(KIF1A):c.3374+2T>G	rs2125791006
NM_001244008.2(KIF1A):c.3465+1G>A
NM_001244008.2(KIF1A):c.4319-2A>G	rs1559477798
NM_001244008.2(KIF1A):c.4868+1G>C	rs1553624714
NM_001244008.2(KIF1A):c.609-1G>A	rs1559527796
NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser)	rs2054374864
NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp)	rs1559526692
NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp)	rs762126771
NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly)	rs879253888
NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)
NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys)	rs1553638086
NM_001244008.2(KIF1A):c.798+1G>A	rs1064796565
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys)	rs1553637932
NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)
NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe)	rs2056552812
NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)
NM_001244008.2(KIF1A):c.958+1G>C	rs780380861

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