List of variants in gene ARX reported as pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)	rs587783182
NM_139058.3(ARX):c.1129del (p.Gln377fs)	rs1601946658
NM_139058.3(ARX):c.1141G>A (p.Ala381Thr)	rs587783096
NM_139058.3(ARX):c.1151G>T (p.Arg384Leu)	rs1064797362
NM_139058.3(ARX):c.1151_1152del (p.Arg384fs)	rs398124506
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)	rs2048682798
NM_139058.3(ARX):c.1256_1260del (p.Phe419fs)	rs2048682677
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)	rs797045292
NM_139058.3(ARX):c.1471dup (p.Leu491fs)	rs797045292
NM_139058.3(ARX):c.1593_1599dup (p.Ala534fs)	rs1057517705
NM_139058.3(ARX):c.172del (p.Ala58fs)	rs587783193
NM_139058.3(ARX):c.30C>A (p.Cys10Ter)	rs794726959
NM_139058.3(ARX):c.467G>A (p.Trp156Ter)	rs2048711878
NM_139058.3(ARX):c.614_642del (p.Leu205fs)	rs886043728
NM_139058.3(ARX):c.790del (p.Arg264fs)	rs886043552
NM_139058.3(ARX):c.980_983del (p.Lys327fs)	rs398124520
NM_139058.3(ARX):c.995G>A (p.Arg332His)	rs111033612
NM_139058.3(ARX):c.998C>A (p.Thr333Asn)	rs104894745

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