List of variants in gene SETX reported as likely pathogenic for Amyotrophic lateral sclerosis type 4

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)	rs375747001	0.00003
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)	rs773379832	0.00001
NC_000009.11:g.(135164039_135171258)_(135176191_135187143)del
NM_015046.7(SETX):c.1011-2A>G
NM_015046.7(SETX):c.1110G>A (p.Trp370Ter)	rs2131463657
NM_015046.7(SETX):c.1165_1167del (p.Leu389del)	rs2131463325
NM_015046.7(SETX):c.1167A>C (p.Leu389Phe)	rs2131463306
NM_015046.7(SETX):c.7112T>C (p.Val2371Ala)
NM_015046.7(SETX):c.879del (p.Phe293fs)

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