List of variants in gene KIF1B, LOC129388447 studied for Charcot-Marie-Tooth disease type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001365951.3(KIF1B):c.429+13G>A	rs199792028	0.00034
NM_001365951.3(KIF1B):c.429+7A>G	rs370895789	0.00015
NM_001365951.3(KIF1B):c.405T>C (p.Asn135=)	rs201229642	0.00007
NM_001365951.3(KIF1B):c.429+12C>T	rs112261441	0.00003
NM_001365951.3(KIF1B):c.364-15A>G	rs771929965	0.00002
NM_001365951.3(KIF1B):c.393T>C (p.Asn131=)	rs763247738	0.00002
NM_001365951.3(KIF1B):c.364-13T>G	rs773130922	0.00001
NM_001365951.3(KIF1B):c.391A>G (p.Asn131Asp)	rs770849620	0.00001
NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser)	rs776533873	0.00001
NM_001365951.3(KIF1B):c.429+8C>T	rs756538021	0.00001
NM_001365951.3(KIF1B):c.364-15A>C
NM_001365951.3(KIF1B):c.399C>G (p.Asn133Lys)	rs996589396
NM_001365951.3(KIF1B):c.400T>C (p.Cys134Arg)
NM_001365951.3(KIF1B):c.415T>G (p.Ser139Ala)
NM_001365951.3(KIF1B):c.422C>G (p.Ser141Cys)	rs2102194265
NM_001365951.3(KIF1B):c.429+13G>T
NM_001365951.3(KIF1B):c.429+17G>A
NM_001365951.3(KIF1B):c.429+6dup	rs2102194280

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