ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2A1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) rs41274468 0.00024
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala) rs201500946 0.00013
NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr) rs145969842 0.00013
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) rs757850683 0.00004
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val) rs374848403 0.00003
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg) rs749610931 0.00003
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly) rs775692548 0.00003
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His) rs373663596 0.00002
NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser) rs755314640 0.00001
NM_001365951.3(KIF1B):c.4922C>T (p.Ser1641Phe) rs748589511 0.00001
NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln) rs376807805 0.00001
NM_001365951.3(KIF1B):c.1927G>A (p.Glu643Lys)
NM_001365951.3(KIF1B):c.2042G>A (p.Arg681Lys)
NM_001365951.3(KIF1B):c.2115+6281A>G rs2102270489
NM_001365951.3(KIF1B):c.2137G>A (p.Ala713Thr)
NM_001365951.3(KIF1B):c.3334A>G (p.Lys1112Glu)
NM_001365951.3(KIF1B):c.3475G>C (p.Gly1159Arg)
NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His) rs1652465916
NM_001365951.3(KIF1B):c.4567C>T (p.Pro1523Ser)
NM_032564.5(DGAT2):c.245T>C (p.Val82Ala)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.