GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HPS3 V189Ainsufficiently evaluated not reviewedunknown
HPS3 E275Kinsufficiently evaluated none, f=0.006unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
HPS3 R396Winsufficiently evaluated pathogenicunknown

(18 web hits)

HPS3 G739Rinsufficiently evaluated none, f=0.012unknown

(1 web hit)

HPS3 L786Pinsufficiently evaluated not reviewedunknown
Total results: 5

Gene search

"GENE" or "GENE A123C":

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