GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DHCR7 M1Linsufficiently evaluated pathogenicunknown

(2 web hits)

DHCR7 M1Vinsufficiently evaluated pathogenicunknown

(1 web hit)

DHCR7 I9Finsufficiently evaluated not reviewed, f=0.012unknown var-GS18502-1100-36-ASM
DHCR7 E37Xinsufficiently evaluated pathogenicunknown

(6 web hits)

DHCR7 Q63Hinsufficiently evaluated not reviewedunknown
DHCR7 T93Minsufficiently evaluated pathogenic, f=0.000unknown

(144 web hits)

DHCR7 L109Pinsufficiently evaluated not reviewedunknown

(8 web hits)

DHCR7 H119Linsufficiently evaluated pathogenicunknown

(2 web hits)

DHCR7 N146Kinsufficiently evaluated not reviewedunknown
DHCR7 W151Xinsufficiently evaluated pathogenic, f=0.001unknown

(124 web hits)

DHCR7 L157Pinsufficiently evaluated not reviewedunknown

(12 web hits)

DHCR7 G244Rinsufficiently evaluated pathogenicunknown

(2 web hits)

DHCR7 W248Cinsufficiently evaluated pathogenicunknown

(1 web hit)

DHCR7 Y280Cinsufficiently evaluated pathogenicunknown

(10 web hits)

DHCR7 F284Linsufficiently evaluated pathogenicunknown

(17 web hits)

DHCR7 T289Iinsufficiently evaluated pathogenicunknown

(13 web hits)

DHCR7 V326Linsufficiently evaluated pathogenicunknown

(86 web hits)

DHCR7 P335Rinsufficiently evaluated not reviewed, f=0.009unknown var-GS18505-1100-36-ASM
DHCR7 V338Minsufficiently evaluated none, f=0.000unknown
DHCR7 R352Qinsufficiently evaluated pathogenicunknown

(49 web hits)

DHCR7 R352Winsufficiently evaluated pathogenicunknown

(38 web hits)

DHCR7 C380Yinsufficiently evaluated not reviewedunknown

(10 web hits)

DHCR7 D386Einsufficiently evaluated not reviewedunknown
DHCR7 G387Shiftinsufficiently evaluated not reviewedunknown
DHCR7 R404Cinsufficiently evaluated pathogenicunknown

(61 web hits)

DHCR7 C422Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
DHCR7 E448Kinsufficiently evaluated pathogenicunknown

(25 web hits)

DHCR7 W459WDWinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
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Total results: 28

Gene search

"GENE" or "GENE A123C":

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