ClinVar Miner

List of variants in gene SPG7 reported as pathogenic by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 9
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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.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.976_987+3del rs878854606

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