ClinVar Miner

List of variants in gene SPAST reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 13
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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.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_014946.4(SPAST):c.1076TTC[1] (p.Leu360del)
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser) rs1553316799
NM_014946.4(SPAST):c.1328T>G (p.Val443Gly) rs2148753923
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1414-2A>G
NM_014946.4(SPAST):c.1462_1463insTTA (p.Asn487_Arg488insIle)
NM_014946.4(SPAST):c.1537-11A>G rs549538513
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter) rs778023258
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile) rs1573186691
NM_014946.4(SPAST):c.419G>A (p.Gly140Glu) rs763649847

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