List of variants in gene combination LOC130001681, SIGMAR1 reported as likely benign for autosomal recessive distal spinal muscular atrophy 2

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_005866.4(SIGMAR1):c.147C>T (p.Tyr49=)	rs1020552197	0.00001
NM_005866.4(SIGMAR1):c.18C>T (p.Gly6=)	rs1479520771	0.00001
NM_005866.4(SIGMAR1):c.30G>T (p.Ala10=)	rs1482584320
NM_005866.4(SIGMAR1):c.39G>C (p.Ala13=)	rs2132330807
NM_005866.4(SIGMAR1):c.45C>G (p.Leu15=)	rs2132330785
NM_005866.4(SIGMAR1):c.48G>A (p.Leu16=)
NM_005866.4(SIGMAR1):c.63G>A (p.Val21=)
NM_005866.4(SIGMAR1):c.84C>T (p.Leu28=)

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