List of variants in gene SIGMAR1 reported as pathogenic for Amyotrophic lateral sclerosis type 16

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)	rs140376902	0.00004
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs)	rs780136067
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)	rs387906829

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