ClinVar Miner

List of variants in gene SPAST reported as uncertain significance for not provided

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_014946.3(SPAST):c.1061T>G (p.Leu354Trp)
NM_014946.3(SPAST):c.1096G>A (p.Glu366Lys)
NM_014946.3(SPAST):c.1098+5G>T rs886042914
NM_014946.3(SPAST):c.1174G>C (p.Ala392Pro)
NM_014946.3(SPAST):c.1223C>T (p.Ala408Val)
NM_014946.3(SPAST):c.1245+5G>A rs1553317049
NM_014946.3(SPAST):c.1247T>C (p.Val416Ala)
NM_014946.3(SPAST):c.134C>A (p.Pro45Gln) rs121908517
NM_014946.3(SPAST):c.1373G>C (p.Ser458Thr) rs562431619
NM_014946.3(SPAST):c.1486G>A (p.Val496Ile) rs779662872
NM_014946.3(SPAST):c.1494-5T>G rs1553319072
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.3(SPAST):c.1501A>C (p.Ile501Leu) rs1057519108
NM_014946.3(SPAST):c.1526C>T (p.Pro509Leu) rs1443578852
NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) rs142053576
NM_014946.3(SPAST):c.1735A>C (p.Asn579His) rs144594804
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.3(SPAST):c.19C>A (p.Arg7=) rs779449573
NM_014946.3(SPAST):c.244T>C (p.Phe82Leu)
NM_014946.3(SPAST):c.277T>C (p.Ser93Pro)
NM_014946.3(SPAST):c.832G>A (p.Val278Met) rs369908571
NM_014946.3(SPAST):c.98C>T (p.Pro33Leu) rs777721232

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