ClinVar Miner

List of variants in gene SACS reported as likely pathogenic for not provided

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Total variants: 12
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HGVS dbSNP
NM_014363.6(SACS):c.10226C>G (p.Ser3409Ter) rs1566059895
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
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.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.9537_9541del (p.Glu3179fs) rs1064796097

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