ClinVar Miner

List of variants in gene SPAST reported as uncertain significance by GeneDx

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_014946.4(SPAST):c.1181C>T (p.Ala394Val) rs1189374970 0.00001
NM_014946.4(SPAST):c.1292G>A (p.Arg431Gln) rs748779010 0.00001
NM_014946.4(SPAST):c.1373G>C (p.Ser458Thr) rs562431619 0.00001
NM_014946.4(SPAST):c.1624G>A (p.Asp542Asn) rs780404151 0.00001
NM_014946.4(SPAST):c.679T>G (p.Ser227Ala) rs762126088 0.00001
NM_014946.4(SPAST):c.742C>T (p.Arg248Cys) rs757176714 0.00001
NM_014946.4(SPAST):c.782C>T (p.Ser261Leu) rs768241184 0.00001
NM_014946.4(SPAST):c.98C>T (p.Pro33Leu) rs777721232 0.00001
NM_014946.4(SPAST):c.-4G>A
NM_014946.4(SPAST):c.1005-5C>A rs377123251
NM_014946.4(SPAST):c.1037G>A (p.Gly346Asp) rs1573121594
NM_014946.4(SPAST):c.1061T>C (p.Leu354Ser) rs1553315342
NM_014946.4(SPAST):c.1153G>A (p.Gly385Arg)
NM_014946.4(SPAST):c.1212_1215delinsAAAA (p.Phe404_Asn405delinsLeuLys)
NM_014946.4(SPAST):c.124C>A (p.Pro42Thr)
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys) rs1553318164
NM_014946.4(SPAST):c.1366G>A (p.Asp456Asn) rs1330471269
NM_014946.4(SPAST):c.1385A>T (p.Lys462Ile)
NM_014946.4(SPAST):c.1487T>G (p.Val496Gly) rs867575128
NM_014946.4(SPAST):c.1494-5T>G rs1553319072
NM_014946.4(SPAST):c.1501A>C (p.Ile501Leu) rs1057519108
NM_014946.4(SPAST):c.1536G>A (p.Glu512=) rs1553319093
NM_014946.4(SPAST):c.1688-10T>C rs2148762754
NM_014946.4(SPAST):c.179G>A (p.Gly60Asp) rs1558605758
NM_014946.4(SPAST):c.183C>G (p.Phe61Leu)
NM_014946.4(SPAST):c.194G>A (p.Arg65His)
NM_014946.4(SPAST):c.19C>A (p.Arg7=) rs779449573
NM_014946.4(SPAST):c.29A>G (p.Lys10Arg) rs2148685090
NM_014946.4(SPAST):c.419G>A (p.Gly140Glu) rs763649847
NM_014946.4(SPAST):c.664A>G (p.Asn222Asp) rs1354823029
NM_014946.4(SPAST):c.682+5G>T
NM_014946.4(SPAST):c.918T>C (p.Thr306=)
NM_014946.4(SPAST):c.950T>G (p.Phe317Cys) rs759832933

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