ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_014946.3(SPAST):c.*1156T>C rs546193636
NM_014946.3(SPAST):c.*11T>C rs753913367
NM_014946.3(SPAST):c.*1231C>T rs886055974
NM_014946.3(SPAST):c.*1231_*1233delCAT rs376420990
NM_014946.3(SPAST):c.*1376A>G rs575900032
NM_014946.3(SPAST):c.*1410T>G rs75645928
NM_014946.3(SPAST):c.*1454G>C rs147052682
NM_014946.3(SPAST):c.*1476A>G rs760307887
NM_014946.3(SPAST):c.*1543_*1544insT rs751815134
NM_014946.3(SPAST):c.*1544G>T rs6709048
NM_014946.3(SPAST):c.*1544dupG rs542086083
NM_014946.3(SPAST):c.*1545T>G rs9789593
NM_014946.3(SPAST):c.*157A>C rs886055963
NM_014946.3(SPAST):c.*1604G>A rs192438402
NM_014946.3(SPAST):c.*1777G>A rs886055976
NM_014946.3(SPAST):c.*1783C>T rs886055977
NM_014946.3(SPAST):c.*1829C>T rs886055978
NM_014946.3(SPAST):c.*1858T>G rs573241334
NM_014946.3(SPAST):c.*1962A>G rs187724468
NM_014946.3(SPAST):c.*1963A>G rs192476121
NM_014946.3(SPAST):c.*1969A>T rs533154653
NM_014946.3(SPAST):c.*1995A>G rs540679757
NM_014946.3(SPAST):c.*19C>T rs558483397
NM_014946.3(SPAST):c.*2150G>C rs147721392
NM_014946.3(SPAST):c.*2164_*2165insGAG rs3040810
NM_014946.3(SPAST):c.*2196A>T rs886055979
NM_014946.3(SPAST):c.*2264G>A rs3769602
NM_014946.3(SPAST):c.*2318G>A rs141017850
NM_014946.3(SPAST):c.*2322T>G rs530517245
NM_014946.3(SPAST):c.*2399C>T rs72796869
NM_014946.3(SPAST):c.*2433A>G rs569779105
NM_014946.3(SPAST):c.*244_*247delTTAG rs201733642
NM_014946.3(SPAST):c.*2504A>G rs886055980
NM_014946.3(SPAST):c.*256A>G rs6730400
NM_014946.3(SPAST):c.*2583C>T rs138968325
NM_014946.3(SPAST):c.*2589T>G rs149425698
NM_014946.3(SPAST):c.*2658A>T rs886055981
NM_014946.3(SPAST):c.*2779G>A rs886055982
NM_014946.3(SPAST):c.*2898C>T rs886055983
NM_014946.3(SPAST):c.*2904C>T rs534543205
NM_014946.3(SPAST):c.*2987G>C rs770713063
NM_014946.3(SPAST):c.*2999dupT rs886055984
NM_014946.3(SPAST):c.*3013T>C rs72796870
NM_014946.3(SPAST):c.*380_*383delTTGT rs756347073
NM_014946.3(SPAST):c.*382G>A rs570596299
NM_014946.3(SPAST):c.*478G>T rs886055966
NM_014946.3(SPAST):c.*494C>T rs886055967
NM_014946.3(SPAST):c.*51A>G rs6730121
NM_014946.3(SPAST):c.*521A>G rs886055968
NM_014946.3(SPAST):c.*533T>G rs886055969
NM_014946.3(SPAST):c.*591A>T rs115996749
NM_014946.3(SPAST):c.*606_*608delTGT rs142605868
NM_014946.3(SPAST):c.*765A>C rs141666739
NM_014946.3(SPAST):c.*815_*828delCTTCCTGATGGAATinsAAC rs886055971
NM_014946.3(SPAST):c.*819C>T rs186529600
NM_014946.3(SPAST):c.*892T>G rs886055972
NM_014946.3(SPAST):c.*98A>G rs56272862
NM_014946.3(SPAST):c.-104_-102delACG rs886055960
NM_014946.3(SPAST):c.-168G>A rs886055959
NM_014946.3(SPAST):c.-176C>T rs886055958
NM_014946.3(SPAST):c.-220G>T rs886055957
NM_014946.3(SPAST):c.-41C>T rs374327295
NM_014946.3(SPAST):c.-7G>A rs376165443
NM_014946.3(SPAST):c.1005-5C>A rs377123251
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.1744T>C (p.Leu582=) rs886055962
NM_014946.3(SPAST):c.289C>A (p.Pro97Thr) rs372005558
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_014946.3(SPAST):c.55C>T (p.Pro19Ser) rs372349942
NM_014946.3(SPAST):c.586+9_586+12delTAAT rs554544808
NM_014946.3(SPAST):c.644G>A (p.Ser215Asn) rs774722817
NM_014946.3(SPAST):c.683-9C>T rs202209866
NM_014946.3(SPAST):c.828T>C (p.Ser276=) rs77525846
NM_014946.3(SPAST):c.865C>T (p.His289Tyr) rs74688377
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166

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