List of variants in gene combination LOC130059818, SPG7 reported as likely pathogenic for Hereditary spastic paraplegia 7

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.120G>A (p.Gly40=)	rs187330648	0.00779
NM_003119.4(SPG7):c.106_110del (p.Pro37fs)	rs2152392902
NM_003119.4(SPG7):c.1A>T (p.Met1Leu)
NM_003119.4(SPG7):c.2T>A (p.Met1Lys)	rs1332265538
NM_003119.4(SPG7):c.2T>C (p.Met1Thr)
NM_003119.4(SPG7):c.3G>A (p.Met1Ile)
NM_003119.4(SPG7):c.79_80insTG (p.Pro27fs)

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