List of variants in gene KIF1A reported as likely pathogenic by SIB Swiss Institute of Bioinformatics

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: 26

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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.499C>T (p.Arg167Cys)	rs672601365	0.00001
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly)	rs387907259
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)	rs2050749062
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)	rs786200949
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)	rs1057518760
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)	rs1064795534
NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp)	rs672601363
NM_001244008.2(KIF1A):c.317C>A (p.Thr106Asn)	rs2055181124
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)	rs548204329
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)	rs1575654528
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)	rs572662012
NM_001244008.2(KIF1A):c.430G>T (p.Val144Phe)	rs672601364
NM_001244008.2(KIF1A):c.444G>T (p.Glu148Asp)	rs2054763570
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)	rs2054757914
NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro)	rs2054755647
NM_001244008.2(KIF1A):c.556G>T (p.Val186Phe)	rs2054752278
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg)	rs1553638614
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)	rs672601366
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)	rs672601368
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro)	rs672601368
NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln)	rs672601371
NM_001244008.2(KIF1A):c.756C>G (p.Ser252Arg)	rs555641774
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)	rs1064793161
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)	rs1064793161
NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro)	rs2052422975

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