List of variants studied for autosomal dominant slowed nerve conduction velocity by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe)	rs9657362	0.11648
NM_014629.4(ARHGEF10):c.1113C>T (p.Phe371=)	rs34655804	0.04733
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile)	rs2294039	0.03098
NM_014629.4(ARHGEF10):c.1991T>C (p.Met664Thr)	rs34319003	0.00800
NM_014629.4(ARHGEF10):c.1260+4C>T	rs79548709	0.00566
NM_014629.4(ARHGEF10):c.38-10T>C	rs138713415	0.00351
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)	rs147531758	0.00123
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val)	rs151080025	0.00082
NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=)	rs147914724	0.00082
NM_014629.4(ARHGEF10):c.3869C>T (p.Ser1290Leu)	rs150226594	0.00041
NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met)	rs35925274	0.00036

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.