ClinVar Miner

List of variants in gene SPG7 reported as pathogenic by Neurogenetics of motion laboratory,Montreal Neurological Institute

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Total variants: 8
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HGVS dbSNP
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg) rs752989523
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu) rs879253797
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_003119.4(SPG7):c.471_472TC[1] (p.Leu158fs) rs879253798
NM_003119.4(SPG7):c.988-1G>A rs748309520

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