List of variants in gene combination LOC130009366, SACS reported as likely pathogenic for cerebellar degeneration

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.103A>T (p.Lys35Ter)
NM_014363.6(SACS):c.106G>T (p.Glu36Ter)
NM_014363.6(SACS):c.155G>A (p.Trp52Ter)	rs2542502077
NM_014363.6(SACS):c.171+1G>A	rs1871663012
NM_014363.6(SACS):c.23G>A (p.Trp8Ter)	rs1871684539
NM_014363.6(SACS):c.24G>A (p.Trp8Ter)	rs2542505703
NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs)	rs2542505639
NM_014363.6(SACS):c.29del (p.Pro10fs)	rs1057516837
NM_014363.6(SACS):c.34_38del (p.Thr12fs)	rs2542505295
NM_014363.6(SACS):c.99del (p.Asp33fs)

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