GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CYP7B1 G57Rinsufficiently evaluated pathogenicunknown

(8 web hits)

CYP7B1 F81Yinsufficiently evaluated not reviewedunknown
CYP7B1 N105Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS07357-1100-36-ASM
CYP7B1 F216Sinsufficiently evaluated pathogenicunknown

(9 web hits)

CYP7B1 E262Xinsufficiently evaluated not reviewedunknown
CYP7B1 Y275Xinsufficiently evaluated pathogenic, f=0.000unknown

(24 web hits)

CYP7B1 R324Hinsufficiently evaluated none, f=0.030unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS00253-DNA_F01_200_37
CYP7B1 S363Finsufficiently evaluated pathogenicunknown

(10 web hits)

CYP7B1 R388Xinsufficiently evaluated pathogenicunknown

(9 web hits)

CYP7B1 R417Hinsufficiently evaluated pathogenic, f=0.000unknown

(27 web hits)

CYP7B1 I419Minsufficiently evaluated not reviewedunknown
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Total results: 11

Gene search

"GENE" or "GENE A123C":

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