ClinVar Miner

List of variants in gene SPG7 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 11
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HGVS dbSNP
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413
NM_003119.4(SPG7):c.2254C>G (p.His752Asp) rs1555618072
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.988-1G>A rs748309520

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