List of variants in gene combination ARX, LOC109610631 reported as pathogenic for X-linked lissencephaly with abnormal genitalia

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_139058.2(ARX):c.304_305ins21 (p.?)
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	rs387906492
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)	rs387906492
NM_139058.3(ARX):c.335_368del (p.Ala112fs)	rs587783199
NM_139058.3(ARX):c.409dup (p.Glu137fs)	rs797045298
NM_139058.3(ARX):c.424_455del (p.Ala142fs)	rs2147324181
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)	rs398124510

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