ClinVar Miner

List of variants in gene SPAST studied for Spastic paraplegia, autosomal dominant

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.*1544dup rs542086083 0.00210
NM_014946.4(SPAST):c.*2999dup rs886055984 0.00010
NM_014946.4(SPAST):c.*11T>C rs753913367 0.00002
NM_014946.4(SPAST):c.*1231_*1233del rs376420990
NM_014946.4(SPAST):c.*1543_*1544insT rs751815134
NM_014946.4(SPAST):c.*2164_*2165insGAG rs3040810
NM_014946.4(SPAST):c.*244_*247del rs201733642
NM_014946.4(SPAST):c.*372TTGT[2] rs756347073
NM_014946.4(SPAST):c.*603TGT[1] rs142605868
NM_014946.4(SPAST):c.*815_*828delinsAAC rs886055971
NM_014946.4(SPAST):c.-104_-102del rs886055960
NM_014946.4(SPAST):c.-176C>T rs886055958
NM_014946.4(SPAST):c.586+9_586+12del rs554544808

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