ClinVar Miner

List of variants in gene ARX reported by Mendelics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
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.1449-8_1453del rs2147318823
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs) rs1601945599
NM_139058.3(ARX):c.1612A>G (p.Lys538Glu) rs1064794843
NM_139058.3(ARX):c.2T>G (p.Met1Arg) rs2147325502
NM_139058.3(ARX):c.578G>C (p.Gly193Ala) rs2147324028

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