List of variants in gene SETX reported as pathogenic by Athena Diagnostics Inc

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser)	rs762175796	0.00001
NM_015046.7(SETX):c.5222dup (p.Asp1742fs)	rs730882209
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)	rs750959420
NM_015046.7(SETX):c.5547_5548+2del	rs1554813128
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter)	rs770684782

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