List of variants in gene CYP7B1 reported as pathogenic for not provided

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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: 15

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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.1081C>T (p.Arg361Ter)	rs773976307	0.00001
NM_004820.5(CYP7B1):c.187C>T (p.Arg63Ter)	rs746979262	0.00001
NM_004820.5(CYP7B1):c.793C>T (p.Gln265Ter)	rs886041525	0.00001
NM_004820.5(CYP7B1):c.1033C>T (p.Gln345Ter)	rs1805413419
NM_004820.5(CYP7B1):c.1139C>G (p.Ser380Ter)	rs2129629943
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)	rs367916692
NM_004820.5(CYP7B1):c.321_324del (p.Lys107fs)	rs770285398
NM_004820.5(CYP7B1):c.399_403del (p.Asp133fs)	rs1805443015
NM_004820.5(CYP7B1):c.631_635del (p.Glu211fs)	rs1805435464
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs)	rs1298132281

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