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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00103
NM_003119.4(SPG7):c.1552+2dup	rs1567928509	0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)	rs1329063851	0.00001
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)	rs752989523	0.00001
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.1075G>C (p.Ala359Pro)	rs1031614168
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)	rs864622507
NM_003119.4(SPG7):c.2254C>G (p.His752Asp)	rs1555618072

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