List of variants in gene REEP1 reported as likely pathogenic for spinal muscular atrophy

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001371279.1(REEP1):c.248del (p.Gly83fs)	rs2104244539
NM_001371279.1(REEP1):c.67T>C (p.Ser23Pro)	rs2104394897

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