List of variants in gene SPG7 reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00102
NM_003119.4(SPG7):c.2096dup (p.Met699fs)	rs747503698	0.00004
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter)	rs138671904	0.00001
NM_003119.4(SPG7):c.861+1G>C	rs1412575396	0.00001
NM_003119.4(SPG7):c.1450-1_1457del	rs768823392

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