ClinVar Miner

List of variants in gene SPG7 reported as pathogenic by Invitae

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Total variants: 22
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HGVS dbSNP
NC_000016.9:g.(?_89574816)_(89575018_?)del
NC_000016.9:g.(?_89595865)_(89596007_?)del
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.3(SPG7):c.1553-?_1779+?del
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs) rs1060503425
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter) rs748555510
NM_003119.4(SPG7):c.1553-2A>G rs1229749476
NM_003119.4(SPG7):c.1626_1627TC[1] (p.Leu543fs) rs766155407
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648
NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs) rs768595656
NM_003119.4(SPG7):c.86G>A (p.Trp29Ter)
NM_003119.4(SPG7):c.988-1G>A rs748309520

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