List of variants in gene CYP2U1 reported as benign 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_183075.3(CYP2U1):c.1127-17T>C	rs6856745	0.63755
NM_183075.3(CYP2U1):c.10C>T (p.Pro4Ser)	rs371029660	0.00352
NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile)	rs142676629	0.00214
NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu)	rs148477072	0.00141
NM_183075.3(CYP2U1):c.992A>G (p.Asn331Ser)	rs148983337	0.00086
NM_183075.3(CYP2U1):c.1377G>A (p.Pro459=)	rs138472735	0.00014
NM_183075.3(CYP2U1):c.1289-3del
NM_183075.3(CYP2U1):c.737G>C (p.Ser246Thr)

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