ClinVar Miner

List of variants in gene SACS reported as pathogenic for Spastic paraplegia

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Total variants: 25
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HGVS dbSNP
NM_014363.6(SACS):c.1004C>A (p.Ser335Ter)
NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter)
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476
NM_014363.6(SACS):c.10933del (p.Phe3644_Leu3645insTer) rs1566058677
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736
NM_014363.6(SACS):c.1441G>T (p.Glu481Ter)
NM_014363.6(SACS):c.1707G>A (p.Trp569Ter)
NM_014363.6(SACS):c.1869del (p.Arg624fs) rs1006060877
NM_014363.6(SACS):c.187A>T (p.Lys63Ter)
NM_014363.6(SACS):c.1940del (p.Lys647fs)
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter)
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.6(SACS):c.517C>T (p.Gln173Ter)
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs)
NM_014363.6(SACS):c.6623del (p.Ala2208fs)
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117
NM_014363.6(SACS):c.9233del (p.Asn3078fs)
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431

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