ClinVar Miner

List of variants in gene SPAST reported as not provided

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00063
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_014946.4(SPAST):c.1292G>A (p.Arg431Gln) rs748779010 0.00001
NM_014946.4(SPAST):c.1031T>C (p.Ile344Thr) rs121908513
NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg) rs1553316806
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1459A>C (p.Asn487His) rs1553318323
NM_014946.4(SPAST):c.1493G>C (p.Arg498Thr) rs2148754411
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter) rs886039695

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