List of variants in gene combination EXOSC8, LOC130009581 reported as uncertain significance 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)	rs200881798	0.00002
NM_181503.3(EXOSC8):c.17+1G>T	rs1412754843
NM_181503.3(EXOSC8):c.17+5del

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