List of variants in gene CYP7B1 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	rs116171274	0.00051
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)	rs121908613	0.00008
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)	rs200737038	0.00007
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)	rs121908611	0.00006
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)	rs587777222	0.00003
NM_004820.5(CYP7B1):c.914dup (p.Met305fs)	rs1554524697

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