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

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_014332.3(SMPX):c.109G>T (p.Glu37Ter)	rs387906707
NM_014332.3(SMPX):c.130del (p.Glu44fs)	rs398122848
NM_014332.3(SMPX):c.175G>T (p.Gly59Ter)	rs387906706
NM_014332.3(SMPX):c.214G>T (p.Glu72Ter)	rs387906708
NM_014332.3(SMPX):c.265T>C (p.Ter89Gln)
NM_014332.3(SMPX):c.45+1G>T
NM_014332.3(SMPX):c.87dup (p.Gly30fs)	rs1569308571
NM_014332.3(SMPX):c.99del (p.Arg34fs)	rs398122930

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