List of variants in gene ARX reported by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.1347C>T (p.Gly449=)	rs75489697	0.01993
NM_139058.3(ARX):c.1671G>A (p.Thr557=)	rs190910161	0.00349
NM_139058.3(ARX):c.1119+6C>T	rs201300786	0.00015
NM_139058.3(ARX):c.1269C>T (p.His423=)	rs794727656	0.00008
NM_139058.3(ARX):c.629G>C (p.Gly210Ala)	rs752323898	0.00005
NM_139058.3(ARX):c.1272G>A (p.Pro424=)	rs398124507	0.00002
NM_139058.3(ARX):c.657T>C (p.Gly219=)	rs755317735	0.00001
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)	rs587783182
NM_139058.3(ARX):c.1151_1152del (p.Arg384fs)	rs398124506
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)	rs398124508
NM_139058.3(ARX):c.1321T>G (p.Phe441Val)	rs886042304
NM_139058.3(ARX):c.1404G>C (p.Ala468=)	rs794727657
NM_139058.3(ARX):c.1515A>C (p.Thr505=)	rs398124509
NM_139058.3(ARX):c.30C>A (p.Cys10Ter)	rs794726959
NM_139058.3(ARX):c.506T>A (p.Ile169Asn)	rs1569395494
NM_139058.3(ARX):c.540G>T (p.Ala180=)	rs794727309
NM_139058.3(ARX):c.614_642del (p.Leu205fs)	rs886043728
NM_139058.3(ARX):c.790del (p.Arg264fs)	rs886043552

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.