List of variants in gene KIF1B, LOC129388446 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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001365951.3(KIF1B):c.106+10T>A	rs368714043	0.00019
NM_001365951.3(KIF1B):c.59C>T (p.Thr20Ile)	rs538135467	0.00009
NM_001365951.3(KIF1B):c.60C>G (p.Thr20=)	rs751386973	0.00006
NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu)	rs760368705	0.00006
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)	rs772548887	0.00005
NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)	rs1269940164	0.00001
NM_001365951.3(KIF1B):c.47A>G (p.Asn16Ser)	rs1409278786	0.00001
NM_001365951.3(KIF1B):c.5C>T (p.Ser2Leu)	rs1272900057	0.00001
NM_001365951.3(KIF1B):c.61A>G (p.Ser21Gly)	rs769237267	0.00001
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)	rs762280202	0.00001
NM_001365951.3(KIF1B):c.81C>T (p.Ile27=)	rs142464329	0.00001
NM_001365951.3(KIF1B):c.-26TA[7]	rs34063243
NM_001365951.3(KIF1B):c.105C>T (p.Thr35=)
NM_001365951.3(KIF1B):c.106+19C>T
NM_001365951.3(KIF1B):c.23T>C (p.Val8Ala)
NM_001365951.3(KIF1B):c.39G>A (p.Arg13=)
NM_001365951.3(KIF1B):c.49T>C (p.Ser17Pro)
NM_001365951.3(KIF1B):c.6G>A (p.Ser2=)
NM_001365951.3(KIF1B):c.71C>G (p.Ser24Cys)
NM_001365951.3(KIF1B):c.79A>G (p.Ile27Val)
NM_001365951.3(KIF1B):c.82A>C (p.Ile28Leu)	rs1646994908
NM_001365951.3(KIF1B):c.85C>T (p.Gln29Ter)
NM_001365951.3(KIF1B):c.87G>C (p.Gln29His)	rs2102129325
NM_001365951.3(KIF1B):c.93A>G (p.Gln31=)	rs765851262
NM_001365951.3(KIF1B):c.98A>G (p.Asn33Ser)

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