GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC19A3 G23Vinsufficiently evaluated pathogenicunknown

(8 web hits)

SLC19A3 K44Einsufficiently evaluated pathogenicunknown
SLC19A3 V174Iinsufficiently evaluated none, f=0.033unknown

(1 web hit)

var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
SLC19A3 E320Qinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC19A3 V350Ainsufficiently evaluated none, f=0.099unknown

(2 web hits)

var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
SLC19A3 T422Ainsufficiently evaluated pathogenicunknown

(8 web hits)

SLC19A3 M492Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
Total results: 7

Gene search

"GENE" or "GENE A123C":

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