List of variants in gene SPG7 reported as likely pathogenic by Invitae

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.2271del (p.Met757fs)	rs1217391623	0.00001
NM_003119.4(SPG7):c.376+1G>T	rs746053679	0.00001
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)	rs199789849
NM_003119.4(SPG7):c.1061G>C (p.Gly354Ala)	rs2152403446
NM_003119.4(SPG7):c.1324+2T>G	rs1597635592
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)	rs151249432
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)	rs1329063851
NM_003119.4(SPG7):c.1936+2T>A	rs1567933730
NM_003119.4(SPG7):c.2001G>A (p.Met667Ile)
NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu)	rs72547553
NM_003119.4(SPG7):c.2103+2_2103+20del	rs1743896594
NM_003119.4(SPG7):c.2104-1G>C
NM_003119.4(SPG7):c.286+1G>T	rs1452259575
NM_003119.4(SPG7):c.932T>A (p.Val311Glu)	rs1060503429
NM_003119.4(SPG7):c.971T>C (p.Phe324Ser)	rs2152402791
NM_003119.4(SPG7):c.976_987+3del	rs878854606

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