ClinVar Miner

List of variants in gene LOC130009366, SACS studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724 0.00006
NM_014363.6(SACS):c.169G>C (p.Glu57Gln) rs1021024627 0.00006
NM_014363.6(SACS):c.51C>T (p.Cys17=) rs763979020 0.00005
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876 0.00004
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977 0.00004
NM_014363.6(SACS):c.159C>G (p.Arg53=) rs968138431 0.00003
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090 0.00001
NM_014363.6(SACS):c.60C>T (p.Cys20=) rs932552006 0.00001
NM_014363.6(SACS):c.83C>T (p.Ser28Phe) rs1365453773 0.00001
NM_014363.6(SACS):c.141G>A (p.Ser47=) rs1593160882
NM_014363.6(SACS):c.155G>A (p.Trp52Ter)
NM_014363.6(SACS):c.171+1G>A
NM_014363.6(SACS):c.21-162C>G rs578105700
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.25_27delinsTT (p.Val9fs)
NM_014363.6(SACS):c.29del (p.Pro10fs) rs1057516837

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