ClinVar Miner

List of variants in gene combination LOC130009366, SACS reported by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
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.25G>A (p.Val9Ile) rs939705811
NM_014363.6(SACS):c.29del (p.Pro10fs) rs1057516837
NM_014363.6(SACS):c.34_38del (p.Thr12fs) rs2542505295

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