List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as benign for spinal muscular atrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.766-49T>C	rs2850597	0.75076
NM_001122955.4(BSCL2):c.765+69A>G	rs2850596	0.74808
NM_001122955.4(BSCL2):c.486+11G>T	rs72929434	0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)	rs6856	0.16571
NM_001122955.4(BSCL2):c.765+15C>T	rs79586077	0.03596
NM_001122955.4(BSCL2):c.88-662C>A	rs117597269	0.01291
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)	rs185341934	0.00096
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)	rs3763853	0.00014
NM_001122955.4(BSCL2):c.88-613G>A	rs112877243
NM_001122955.4(BSCL2):c.88-663G>A	rs117862461

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