List of variants in gene HACE1 reported as uncertain significance for complex hereditary spastic paraplegia

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_020771.4(HACE1):c.1990C>T (p.Arg664Ter)	rs761703540	0.00001
NM_020771.4(HACE1):c.1015A>G (p.Ser339Gly)
NM_020771.4(HACE1):c.1346C>G (p.Ala449Gly)	rs2114797044
NM_020771.4(HACE1):c.1351C>T (p.Arg451Trp)	rs1455900509
NM_020771.4(HACE1):c.145CTA[1] (p.Leu50del)
NM_020771.4(HACE1):c.326+3A>C
NM_020771.4(HACE1):c.350T>C (p.Leu117Ser)
NM_020771.4(HACE1):c.402+5G>A	rs1316982922
NM_020771.4(HACE1):c.535-686A>G

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