ClinVar Miner

List of variants in gene SACS reported as pathogenic by OMIM

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Total variants: 11
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HGVS dbSNP
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) rs137853016
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) rs137853018
SACS, 1-BP DEL, 1411T
SACS, 1-BP DEL, 31760T
SACS, 1-BP INS, 1155A
SACS, 10-BP DEL, NT32627

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