ClinVar Miner

List of variants in gene SETX reported as likely pathogenic for Spastic ataxia

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.5540C>T (p.Thr1847Met)	rs763859485	0.00003
NM_015046.7(SETX):c.482T>G (p.Val161Gly)	rs1848052674	0.00001

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