List of variants in gene SETX reported as likely pathogenic by Neuberg Centre For Genomic Medicine, NCGM

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)	rs1169623576	0.00001
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)	rs768349691	0.00001
NM_015046.7(SETX):c.5243dup (p.Leu1750fs)	rs754706851
NM_015046.7(SETX):c.5276del (p.Val1759fs)	rs2539022534
NM_015046.7(SETX):c.5505_5507dup (p.Tyr1836Ter)	rs2538980290
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter)	rs1339011741

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