List of variants in gene SMN1 reported as pathogenic for Spinal muscular atrophy, type II

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)	rs1554066397	0.00571
NG_008691.1:g.(32498_32055)_(33073_?)del
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)	rs77804083
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly)	rs104893935
NM_000344.4(SMN1):c.399_402del (p.Glu134fs)	rs77668214
NM_000344.4(SMN1):c.48_55dup (p.Val19fs)	rs1561498701
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)	rs1554066666
NM_000344.4(SMN1):c.88G>A (p.Asp30Asn)	rs104893930

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