GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NPHP3 G63Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
NPHP3 L197Finsufficiently evaluated not reviewedunknown
NPHP3 T331Ainsufficiently evaluated not reviewedunknown
NPHP3 S360Tinsufficiently evaluated pathogenicunknown

(1 web hit)

NPHP3 R397Cinsufficiently evaluated not reviewed, f=0.003unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
NPHP3 E461Xinsufficiently evaluated pathogenicunknown

(1 web hit)

NPHP3 R577Xinsufficiently evaluated pathogenicunknown
NPHP3 T709Ainsufficiently evaluated not reviewedunknown
NPHP3 D732Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
NPHP3 L818Finsufficiently evaluated not reviewedunknown
NPHP3 P965Linsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_G01_200_37
NPHP3 R973Qinsufficiently evaluated pathogenicunknown
NPHP3 Q1114Xinsufficiently evaluated pathogenicunknown
NPHP3 R1167Hinsufficiently evaluated not reviewed, f=0.002unknown
NPHP3 Y1178Hinsufficiently evaluated not reviewed, f=0.000unknown
NPHP3 R1305Cinsufficiently evaluated not reviewed, f=0.019unknown hu3215A7 build 36 substitution variants
NPHP3 S1314Tinsufficiently evaluated not reviewed, f=0.006unknown var-GS19025-1100-36-ASM
var-GS19026-1100-36-ASM
NPHP3 F1324Sinsufficiently evaluated not reviewed, f=0.001unknown
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Total results: 18

Gene search

"GENE" or "GENE A123C":

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