List of variants in gene combination LOC130001681, SIGMAR1 reported as benign for autosomal recessive disease

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.5A>C (p.Gln2Pro)	rs1800866	0.17661
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=)	rs541251697	0.00208
NC_000009.12:g.34637993_34637994delinsAA	rs371780375

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