List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as pathogenic 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)	rs137852972	0.00002
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	rs137852973	0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)	rs786205071	0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)	rs137852970	0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)	rs137852971	0.00001
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)	rs137852973
NM_001122955.4(BSCL2):c.864-2A>G	rs766061024
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)	rs749890533

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