List of variants in gene KIF1B reported as uncertain significance for Charcot-Marie-Tooth disease

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: 45

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HGVS	dbSNP	gnomAD frequency
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)	rs139572764	0.00046
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)	rs121908162	0.00040
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg)	rs145266399	0.00024
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile)	rs41274468	0.00024
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)	rs200561798	0.00022
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile)	rs142881321	0.00017
NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys)	rs754226097	0.00014
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala)	rs201500946	0.00013
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)	rs552529704	0.00012
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)	rs143654307	0.00009
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)	rs374098797	0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)	rs373698346	0.00009
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)	rs768672234	0.00006
NM_001365951.3(KIF1B):c.3259+3A>C	rs1388178227	0.00004
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)	rs769092155	0.00004
NM_001365951.3(KIF1B):c.2115+6213G>T	rs587777883	0.00003
NM_001365951.3(KIF1B):c.3043G>A (p.Ala1015Thr)	rs200614254	0.00003
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg)	rs749610931	0.00003
NM_001365951.3(KIF1B):c.2115+6425T>C	rs778186347	0.00001
NM_001365951.3(KIF1B):c.2115+7103A>G	rs756513840	0.00001
NM_001365951.3(KIF1B):c.3140C>T (p.Ser1047Leu)	rs267597898	0.00001
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)	rs567728453	0.00001
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)	rs376471111	0.00001
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)	rs758454220	0.00001
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val)	rs866755197	0.00001
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu)	rs896518063
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile)	rs1650197606
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)	rs756935623
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)	rs766127664
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)	rs1650299804
NM_001365951.3(KIF1B):c.2115+6205C>G	rs771399291
NM_001365951.3(KIF1B):c.2115+6385G>A	rs1569773823
NM_001365951.3(KIF1B):c.2115+6548G>A	rs781257253
NM_001365951.3(KIF1B):c.2115+7308A>C	rs772349989
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His)	rs145494902
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)	rs1652211900
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val)	rs529804940
NM_001365951.3(KIF1B):c.3991G>T (p.Asp1331Tyr)	rs766990936
NM_001365951.3(KIF1B):c.4165C>A (p.Leu1389Ile)	rs1569897794
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val)	rs868357926
NM_001365951.3(KIF1B):c.4525dup (p.Arg1509fs)	rs377576958
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)	rs757828399
NM_001365951.3(KIF1B):c.5419T>C (p.Ser1807Pro)	rs1569935737
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe)	rs775958513
NM_001365951.3(KIF1B):c.959-16T>A	rs1206994711

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