List of variants in gene ASCC1 reported as pathogenic for prenatal-onset spinal muscular atrophy with congenital bone fractures

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001198800.3(ASCC1):c.382C>T (p.Arg128Ter)	rs183415577	0.00006
NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter)	rs866050664	0.00002
NM_001198800.3(ASCC1):c.311-2A>G	rs1281256224	0.00001
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)	rs769501930	0.00001
NM_001198800.3(ASCC1):c.626+1G>A	rs747595523	0.00001
NM_001198800.3(ASCC1):c.871+1G>A	rs763845791	0.00001
NC_000010.10:g.(?_73970434)_(73973122_?)del
NC_000010.11:g.72138925_72163147del
NG_031890.1:g.(?_60461)_(94053_?)del
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)	rs753324947
NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter)	rs746994660
NM_001198800.3(ASCC1):c.464_465del (p.Glu155fs)
NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter)	rs778054296
NM_001198800.3(ASCC1):c.79C>T (p.Gln27Ter)
NM_001198800.3(ASCC1):c.943C>T (p.Arg315Ter)	rs1389098934

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