ClinVar Miner

List of variants in gene SPG7 reported as pathogenic by GeneDx

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Total variants: 17
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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.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter) rs1373388852
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter) rs138671904
NM_003119.4(SPG7):c.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698
NM_003119.4(SPG7):c.2189del (p.Asn730fs) rs863224223
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_003119.4(SPG7):c.376+1G>T rs746053679
NM_003119.4(SPG7):c.416_432del (p.Arg139fs) rs1085307874
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003

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