List of variants in gene TOPORS reported as pathogenic for perceptual disorders

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_005802.5(TOPORS):c.2422G>T (p.Glu808Ter)	rs927241903
NM_005802.5(TOPORS):c.2474dup (p.Tyr825Ter)	rs1587620953
NM_005802.5(TOPORS):c.2524dup (p.Thr842fs)	rs1587620892
NM_005802.5(TOPORS):c.2539del (p.Arg847fs)
NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs)	rs1563983151
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)	rs527236116
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs)	rs527236116
NM_005802.5(TOPORS):c.2558_2559insT (p.His855fs)	rs1821069769
NM_005802.5(TOPORS):c.2569del (p.Arg857fs)	rs1554671407
NM_005802.5(TOPORS):c.3090dup (p.Thr1031fs)	rs1257671376

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