List of variants reported as likely benign for Charcot-Marie-Tooth disease type 2 by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.-149-15T>G	rs114306601	0.02781
NC_000012.12:g.109833413C>T	rs56079803	0.02373
NM_014874.4(MFN2):c.159C>T (p.Ser53=)	rs61733200	0.02240
NM_014874.3(MFN2):c.-249T>A	rs2180182	0.01549
NM_014874.3(MFN2):c.-287C>T	rs2180181	0.01549
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)	rs41278630	0.00221
NM_001365951.3(KIF1B):c.-260C>T	rs149705989	0.00154
NM_014874.4(MFN2):c.408A>T (p.Val136=)	rs78814413	0.00106
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)	rs144860227	0.00032
NM_014874.4(MFN2):c.2157G>A (p.Lys719=)	rs148441213	0.00017
NM_014874.4(MFN2):c.*1706T>G	rs543365043	0.00016
NM_014874.4(MFN2):c.-161G>A	rs140094248	0.00014
NM_014874.4(MFN2):c.*26G>A	rs374800481	0.00011
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)	rs147136530	0.00010
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=)	rs142656819	0.00006
NM_014874.4(MFN2):c.179C>T (p.Thr60Met)	rs138345244	0.00005
NM_014874.4(MFN2):c.522T>C (p.His174=)	rs762789747	0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)	rs201715603	0.00004
NM_014874.4(MFN2):c.1818C>T (p.Gly606=)	rs373843969	0.00002
NM_014874.4(MFN2):c.205G>A (p.Val69Ile)	rs28940296	0.00001
NM_001005373.4(LRSAM1):c.*105del	rs200242834
NM_001365951.3(KIF1B):c.*4127dup	rs548680591
NM_001365951.3(KIF1B):c.*4279dup	rs531640427
NM_001365951.3(KIF1B):c.-26TA[7]	rs34063243
NM_002047.4(GARS1):c.*145del	rs529035174
NM_002047.4(GARS1):c.*36del	rs758974790
NM_004637.6(RAB7A):c.*997del	rs371200521
NM_014365.3(HSPB8):c.*848TAA[9]	rs60924821
NM_014874.4(MFN2):c.221_222dup	rs558848411
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)	rs141468012
NM_014874.4(MFN2):c.1950G>A (p.Leu650=)	rs772030424

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.