ClinVar Miner

List of variants in gene SPAST reported as benign

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Gene type:
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Total variants: 19
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HGVS dbSNP
GRCh37/hg19 2p22.3(chr2:32375334-32389646)x3
NM_014946.3(SPAST):c.*1544G>T rs6709048
NM_014946.3(SPAST):c.*1545T>G rs9789593
NM_014946.3(SPAST):c.*2164_*2165insGAG rs3040810
NM_014946.3(SPAST):c.*2264G>A rs3769602
NM_014946.3(SPAST):c.-423C>A
NM_014946.3(SPAST):c.1174-154G>A
NM_014946.3(SPAST):c.1174-289T>C
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.1493+18G>T rs189961829
NM_014946.3(SPAST):c.1494-3dupT rs760322678
NM_014946.3(SPAST):c.1593A>G (p.Gln531=) rs754291673
NM_014946.3(SPAST):c.1687+268C>T
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_014946.3(SPAST):c.683-9C>T rs202209866
NM_014946.3(SPAST):c.865C>T (p.His289Tyr) rs74688377
NM_014946.3(SPAST):c.870+283C>T
NM_014946.3(SPAST):c.871-289C>G
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166

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