ClinVar Miner

List of variants in gene ARX reported as pathogenic for West syndrome

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) rs869312662
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
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.1369_1391del (p.Gly457fs) rs1601946502
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) rs1601946492
NM_139058.3(ARX):c.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1443dup (p.Gly482fs) rs2147320305
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer) rs797045292
NM_139058.3(ARX):c.1472del (p.Leu491fs) rs2147318790
NM_139058.3(ARX):c.1497del (p.Leu500fs)
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.1604T>A (p.Leu535Gln) rs387906715
NM_139058.3(ARX):c.193C>T (p.Gln65Ter)
NM_139058.3(ARX):c.486_489del (p.Ser162fs)
NM_139058.3(ARX):c.590dup (p.Val198fs)
NM_139058.3(ARX):c.642_645del (p.Pro215fs) rs2147323943
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_139058.3(ARX):c.956C>A (p.Ser319Ter) rs2048708701
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612

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