List of variants in gene SPG7 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.618+12T>C	rs3803679	0.45572
NM_003119.4(SPG7):c.1663+13C>T	rs80324518	0.05587
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_003119.4(SPG7):c.1324+4187C>T	rs143254053	0.00185
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00103
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)	rs140769107	0.00061
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)	rs768823392
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)	rs199789849
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)	rs368541637
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs)	rs748255454
NM_003119.4(SPG7):c.987+5A>G	rs4785691

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