List of variants in gene HACE1 reported as pathogenic for hereditary spastic paraplegia

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_020771.4(HACE1):c.994C>T (p.Arg332Ter)	rs759641985	0.00002
NM_020771.4(HACE1):c.1396C>T (p.Gln466Ter)	rs1337798545	0.00001
NM_020771.4(HACE1):c.655C>T (p.Arg219Ter)	rs869025280	0.00001
NM_020771.4(HACE1):c.805C>T (p.Arg269Ter)	rs750371878	0.00001
NC_000006.11:g.(?_105175968)_(105307795_?)del
NC_000006.12:g.104771387TACCTAAAAA[3]
NM_020771.4(HACE1):c.152C>G (p.Ser51Ter)
NM_020771.4(HACE1):c.1712C>A (p.Ser571Ter)	rs1582418143
NM_020771.4(HACE1):c.1852_1853del (p.Gln618fs)	rs751809418
NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter)	rs869025281
NM_020771.4(HACE1):c.239G>A (p.Cys80Tyr)	rs1319508199
NM_020771.4(HACE1):c.240C>A (p.Cys80Ter)	rs761086584
NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del)	rs869025283
NM_020771.4(HACE1):c.355G>T (p.Glu119Ter)	rs2115167557
NM_020771.4(HACE1):c.454C>T (p.Gln152Ter)	rs869025284
NM_020771.4(HACE1):c.859C>T (p.Gln287Ter)

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