List of variants in gene CYP2U1 reported as pathogenic for 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)	rs747965749	0.00005
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)	rs141431913	0.00003
NM_183075.3(CYP2U1):c.342C>A (p.Tyr114Ter)	rs1021034246	0.00001
NC_000004.11:g.(?_108852800)_(108866781_?)del
NM_183075.3(CYP2U1):c.1033_1034del (p.Ile345fs)	rs1578729121
NM_183075.3(CYP2U1):c.1091del (p.Cys364fs)
NM_183075.3(CYP2U1):c.1152_1153del (p.Arg384fs)	rs759033144
NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter)	rs772400670
NM_183075.3(CYP2U1):c.1210_1211del (p.Glu404fs)	rs767024102
NM_183075.3(CYP2U1):c.543_544del (p.His182fs)
NM_183075.3(CYP2U1):c.654_661del (p.Cys219fs)
NM_183075.3(CYP2U1):c.854del (p.Lys285fs)	rs762698300
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)	rs397514513
NM_183075.3(CYP2U1):c.947_948del (p.Asp316fs)	rs2126199530

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