List of variants in gene SMN1 studied for Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy, type IV

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000344.4(SMN1):c.*3+80T>G	rs143838139	0.08111
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser)	rs187925143	0.00007
NC_000005.10:g.70946066_70946176del	rs1554082110
NM_000344.4(SMN1):c.835-1G>A	rs1217001154
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)

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