List of variants in gene KIF1A studied for Neuropathy, hereditary sensory and autonomic, type 2A

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001244008.2(KIF1A):c.5105G>A (p.Arg1702His)	rs369839651	0.00003
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)	rs587778791	0.00001
NM_001244008.2(KIF1A):c.3064-13C>T	rs779347174	0.00001
NM_001244008.2(KIF1A):c.3640+12C>T	rs1403885809	0.00001
NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp)	rs368577433	0.00001
NM_001244008.2(KIF1A):c.393C>A (p.Asn131Lys)	rs35139906
NM_001244008.2(KIF1A):c.4537C>G (p.Leu1513Val)	rs2045537723
NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs)	rs587778798
NM_001244008.2(KIF1A):c.527C>T (p.Pro176Leu)	rs2054754659
NM_001244008.2(KIF1A):c.653A>G (p.His218Arg)	rs2126062571
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	rs672601370

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