ClinVar Miner

List of variants in gene SACS reported as likely pathogenic by GeneDx

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Total variants: 9
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NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.2475dup (p.Val826fs) rs1555252909
NM_014363.6(SACS):c.5431A>T (p.Lys1811Ter) rs1085307587
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681
NM_014363.6(SACS):c.712A>T (p.Lys238Ter) rs764585158
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.9537_9541del (p.Glu3179fs) rs1064796097
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931

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