List of variants in gene SPG7 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00103
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	rs121918358	0.00014
NC_000016.10:g.(89559945_?)_(?_89549777)del
NM_003119.4(SPG7):c.1450-446_1779+746delinsAAAGTGCT
NM_003119.4(SPG7):c.1617del (p.Val540fs)	rs762795756
NM_003119.4(SPG7):c.1739TGG[1] (p.Val581del)	rs1597661607
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)	rs267607085
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)	rs121918357
NM_003119.4(SPG7):c.2216dup (p.Asn739fs)	rs763126378
NM_003119.4(SPG7):c.773_774del (p.Val258fs)	rs768136171
NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs)	rs768595656

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