List of variants in gene CYP7B1 reported as pathogenic by Paris Brain Institute, Inserm - ICM

Minimum submission review status:		Collection method:
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: 16

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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.889A>G (p.Thr297Ala)	rs587777222	0.00003
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn)	rs753708048	0.00001
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)	rs72554620	0.00001
NM_004820.5(CYP7B1):c.1193C>T (p.Pro398Leu)	rs767611387	0.00001
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)	rs754730601	0.00001
NM_004820.5(CYP7B1):c.1168G>T (p.Gly390Ter)	rs765443036
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)	rs367916692
NM_004820.5(CYP7B1):c.1311_1316delinsAGAA (p.Cys437_Leu439delinsTer)	rs2129629751
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)	rs769676029
NM_004820.5(CYP7B1):c.151G>C (p.Gly51Arg)	rs961524982
NM_004820.5(CYP7B1):c.170G>C (p.Gly57Ala)	rs1805578327
NM_004820.5(CYP7B1):c.260-1G>A	rs1385678413
NM_004820.5(CYP7B1):c.314dup (p.Asn105fs)	rs747514385
NM_004820.5(CYP7B1):c.67del (p.Ala23fs)	rs2129748221

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