List of variants in gene SIGMAR1 reported as likely pathogenic for amyotrophic lateral sclerosis

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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: 7

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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.152-2A>T	rs2132329744
NM_005866.4(SIGMAR1):c.446-25_*40del	rs1554707622
NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys)	rs757260058
NM_005866.4(SIGMAR1):c.451A>G (p.Thr151Ala)	rs1820836522
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs)	rs1554707680
NM_005866.4(SIGMAR1):c.637G>A (p.Glu213Lys)	rs2132323906

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