List of variants in gene EXOSC8 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)	rs36027220	0.00400
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)
NM_181503.3(EXOSC8):c.628C>A (p.Pro210Thr)
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)	rs1593709247
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)	rs1221939030

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