ClinVar Miner

Variants from Clinical Biochemistry Laboratory,Health Services Laboratory

Location: United Kingdom — Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
238 0 79 0 0 317

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic uncertain significance total
AGXT 179 55 234
GRHPR 29 13 42
HOGA1 29 11 40
AGXT, ANKMY1, AQP12A, AQP12B, CAPN10, CAPN10-DT, COPS9, DUSP28, GPC1, GPR35, HDAC4, KIF1A, LOC100130449, LOC106783501, LOC110121201, LOC110121227, LOC111501790, LOC112840918, LOC112840919, LOC112840920, LOC150935, LOC285191, MGC16025, MIR149, MIR2467, MIR4269, MIR4440, MIR4441, MIR4786, NDUFA10, OR6B2, OR6B3, OTOS, PRR21, RNPEPL1 1 0 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic uncertain significance total
Primary hyperoxaluria, type I 180 55 235
Primary hyperoxaluria, type II 29 13 42
Primary hyperoxaluria, type III 29 11 40

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