List of variants in gene ARX reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.1671G>A (p.Thr557=)	rs190910161	0.00349
NM_139058.3(ARX):c.802G>T (p.Val268Leu)	rs587783141	0.00093
NM_139058.3(ARX):c.1388G>A (p.Ser463Asn)	rs763950769	0.00005
NM_139058.3(ARX):c.592G>A (p.Val198Ile)	rs966816905	0.00001
NM_139058.3(ARX):c.811A>G (p.Thr271Ala)	rs1057522232	0.00001
NM_139058.3(ARX):c.1151G>A (p.Arg384His)	rs1064797362
NM_139058.3(ARX):c.1209G>C (p.Pro403=)	rs1380487514
NM_139058.3(ARX):c.134G>T (p.Gly45Val)
NM_139058.3(ARX):c.1479C>G (p.Ser493Arg)	rs1601945709
NM_139058.3(ARX):c.742G>C (p.Glu248Gln)	rs1601948443
NM_139058.3(ARX):c.945G>A (p.Ala315=)	rs1310022652

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