GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NPHP1 R5Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19649-1100-36-ASM
NPHP1 L27Xinsufficiently evaluated pathogenicunknown
NPHP1 P39Tinsufficiently evaluated none, f=0.027unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
NPHP1 E71Ginsufficiently evaluated not reviewedunknown
NPHP1 K82Rinsufficiently evaluated not reviewedunknown
NPHP1 A168Vinsufficiently evaluated not reviewedunknown
NPHP1 A230Vinsufficiently evaluated not reviewed, f=0.012unknown

(1 web hit)

NPHP1 C272Rinsufficiently evaluated not reviewedunknown
NPHP1 G274Einsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
NPHP1 C335Rinsufficiently evaluated not reviewedunknown
NPHP1 G343Rinsufficiently evaluated pathogenicunknown

(2 web hits)

NPHP1 C390Rinsufficiently evaluated not reviewedunknown

(1 web hit)

NPHP1 C391Rinsufficiently evaluated not reviewedunknown
NPHP1 P565Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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