List of variants reported as benign for arthrogryposis multiplex congenita 2, neurogenic type 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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser)	rs11073964	0.58143
NM_018668.5(VPS33B):c.-325T>C	rs11073967	0.57234
NM_018668.5(VPS33B):c.1105+9C>T	rs3826033	0.13431
NM_018668.5(VPS33B):c.151C>A (p.Arg51=)	rs11542638	0.09422
NM_018668.5(VPS33B):c.1656A>T (p.Thr552=)	rs16945153	0.05737
NM_018668.5(VPS33B):c.609A>G (p.Ala203=)	rs76867988	0.02746
NM_018668.5(VPS33B):c.648C>T (p.Gly216=)	rs59648701	0.01941
NM_018668.5(VPS33B):c.597C>T (p.Cys199=)	rs60198611	0.01658
NM_018668.5(VPS33B):c.-8C>T	rs11542639	0.01125
NM_018668.5(VPS33B):c.1671A>G (p.Glu557=)	rs148071246	0.00686
NM_018668.5(VPS33B):c.-271A>C	rs116461458	0.00418
NM_018668.5(VPS33B):c.1332G>A (p.Thr444=)	rs147407982	0.00416
NM_018668.5(VPS33B):c.357G>A (p.Lys119=)	rs146758743	0.00120
NM_018668.5(VPS33B):c.-7C>G	rs2289617	0.00117

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.