List of variants in gene ARX reported as pathogenic for X-linked disease

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

Total variants: 51

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.856G>A (p.Gly286Ser)	rs28935479	0.00001
ARX, ARG2085HIS
NG_008281.1:g.(?_4983)_(8028_10643)del
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln)	rs104894741
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)	rs104894743
NM_139058.3(ARX):c.1096del (p.Asp366fs)	rs797045289
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)	rs587783182
NM_139058.3(ARX):c.1111del (p.Arg371fs)	rs2519104168
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter)	rs104894740
NM_139058.3(ARX):c.1120-2A>G	rs2147320644
NM_139058.3(ARX):c.1120-82_1469dup
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)	rs2147320638
NM_139058.3(ARX):c.1141del (p.Ala381fs)	rs1556049694
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)	rs2519101958
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs)	rs797045290
NM_139058.3(ARX):c.1180_1187del (p.His394fs)	rs2519101904
NM_139058.3(ARX):c.1187dup (p.Gly397fs)	rs1328291159
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)	rs2048682798
NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)	rs2519101744
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs)	rs2048682045
NM_139058.3(ARX):c.1337dup (p.Pro447fs)	rs797045291
NM_139058.3(ARX):c.1372del (p.Ala458fs)	rs587783187
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter)	rs587783189
NM_139058.3(ARX):c.1443dup (p.Gly482fs)	rs2147320305
NM_139058.3(ARX):c.1449-82_1469dup	rs1556046904
NM_139058.3(ARX):c.1465del (p.Ala489fs)	rs587783191
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)	rs797045292
NM_139058.3(ARX):c.1471dup (p.Leu491fs)	rs797045292
NM_139058.3(ARX):c.1497del (p.Leu500fs)	rs2519099414
NM_139058.3(ARX):c.1520_1526dup (p.Glu509fs)	rs2519099357
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs)	rs1601945655
NM_139058.3(ARX):c.1559del (p.Pro520fs)	rs2519099293
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter)	rs1601945626
NM_139058.3(ARX):c.193C>T (p.Gln65Ter)	rs2519109094
NM_139058.3(ARX):c.232G>T (p.Glu78Ter)	rs267606666
NM_139058.3(ARX):c.26dup (p.Cys10fs)	rs2147325489
NM_139058.3(ARX):c.486_489del (p.Ser162fs)	rs2519107209
NM_139058.3(ARX):c.502_503dup (p.Ser168fs)	rs2147324110
NM_139058.3(ARX):c.525C>G (p.Tyr175Ter)	rs1601948603
NM_139058.3(ARX):c.557dup (p.Pro187fs)	rs2519107067
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter)	rs797045303
NM_139058.3(ARX):c.590dup (p.Val198fs)	rs2519107008
NM_139058.3(ARX):c.617del (p.Gly206fs)	rs587783202
NM_139058.3(ARX):c.642_645del (p.Pro215fs)	rs2147323943
NM_139058.3(ARX):c.790del (p.Arg264fs)	rs886043552
NM_139058.3(ARX):c.880G>T (p.Glu294Ter)
NM_139058.3(ARX):c.956C>A (p.Ser319Ter)	rs2048708701
NM_139058.3(ARX):c.98T>C (p.Leu33Pro)	rs28936077
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)	rs2147323593
NM_139058.3(ARX):c.995G>A (p.Arg332His)	rs111033612
NM_139058.3(ARX):c.995G>T (p.Arg332Leu)	rs111033612

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.