ClinVar Miner

List of variants in gene SACS reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs) rs2137577962
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) rs2137569225
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs) rs1057516406
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) rs1057516779
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
NM_014363.6(SACS):c.520G>T (p.Glu174Ter) rs2137742889
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs)
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter) rs2137582138
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153

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