List of variants in gene ARX reported as pathogenic for developmental disorder of mental health

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.856G>A (p.Gly286Ser)	rs28935479	0.00001
ARX, ARG2085HIS
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)	rs587783182
NM_139058.3(ARX):c.1111del (p.Arg371fs)
NM_139058.3(ARX):c.1120-2A>G	rs2147320644
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)	rs2147320638
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)
NM_139058.3(ARX):c.1180_1187del (p.His394fs)
NM_139058.3(ARX):c.1187dup (p.Gly397fs)	rs1328291159
NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs)	rs2048682045
NM_139058.3(ARX):c.1443dup (p.Gly482fs)	rs2147320305
NM_139058.3(ARX):c.1446_1448+1dup	rs1601946481
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)	rs797045292
NM_139058.3(ARX):c.1497del (p.Leu500fs)
NM_139058.3(ARX):c.1520_1526dup (p.Glu509fs)
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs)	rs1601945655
NM_139058.3(ARX):c.1559del (p.Pro520fs)
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter)	rs1601945626
NM_139058.3(ARX):c.193C>T (p.Gln65Ter)
NM_139058.3(ARX):c.26dup (p.Cys10fs)	rs2147325489
NM_139058.3(ARX):c.486_489del (p.Ser162fs)
NM_139058.3(ARX):c.502_503dup (p.Ser168fs)	rs2147324110
NM_139058.3(ARX):c.590dup (p.Val198fs)
NM_139058.3(ARX):c.642_645del (p.Pro215fs)	rs2147323943
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

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