ClinVar Miner

List of variants in gene ARX reported as pathogenic by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1096del (p.Asp366fs) rs797045289
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter) rs587783182
NM_139058.3(ARX):c.1120-82_1469dup
NM_139058.3(ARX):c.1141del (p.Ala381fs) rs1556049694
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs) rs797045290
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs) rs2048682798
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.1449-82_1469dup rs1556046904
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1471dup (p.Leu491fs) rs797045292
NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs) rs1556046720
NM_139058.3(ARX):c.1544del (p.Gly515fs) rs587783192
NM_139058.3(ARX):c.172del (p.Ala58fs) rs587783193
NM_139058.3(ARX):c.34G>T (p.Glu12Ter) rs587783200
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter) rs797045303
NM_139058.3(ARX):c.617del (p.Gly206fs) rs587783202
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612
NM_139058.3(ARX):c.995G>T (p.Arg332Leu) rs111033612
NM_139058.3(ARX):c.998C>A (p.Thr333Asn) rs104894745
NM_139058.3(ARX):c.998C>G (p.Thr333Ser) rs104894745

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