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:

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
312 103 97 6 3 521

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AGXT 195 24 60 4 2 285
HOGA1 37 34 15 0 0 86
GRHPR 32 13 14 1 1 61
CYP11B2, LOC106799834 13 10 3 0 0 26
CYP11B1, LOC106799833 4 8 3 0 0 15
HSD17B3, SLC35D2-HSD17B3 7 7 0 0 0 14
SRD5A2 13 0 0 0 0 13
HSD3B2 4 2 1 0 0 7
AR 1 4 0 1 0 6
CYP11B1 2 1 0 0 0 3
CYP17A1 1 0 1 0 0 2
AGXT, ANKMY1, AQP12A, AQP12B, CAPN10, CAPN10-DT, COPS9, DUSP28, GPC1, GPR35, HDAC4, KIF1A, LINC02991, LOC106783501, LOC110121201, LOC110121227, LOC111501790, LOC112840918, LOC112840919, LOC112840920, LOC121009634, LOC121009635, LOC122889014, LOC126806580, LOC126806581, LOC126806582, LOC126806583, LOC129935948, LOC129935949, LOC129935950, LOC129935951, LOC129935952, LOC129935953, LOC129935954, LOC129935955, LOC129935956, LOC129935957, LOC129935958, LOC129935959, LOC129935960, LOC129935961, LOC129935962, LOC129935963, LOC129935964, LOC129935965, LOC129935966, LOC129935967, LOC129935968, LOC129935969, LOC129935970, LOC129935971, LOC129935972, LOC129935973, LOC129935974, LOC129935975, LOC129935976, LOC129935977, LOC129935978, LOC129935979, LOC129935980, LOC129935981, LOC129935982, LOC129935983, LOC129935984, LOC129935985, LOC129935986, LOC129935987, LOC129935988, LOC129935989, LOC150935, LOC285191, MIR149, MIR2467, MIR4269, MIR4440, MIR4441, MIR4786, NDUFA10, OR6B2, OR6B3, OTOS, PRR21, RNPEPL1 1 0 0 0 0 1
HAO1 1 0 0 0 0 1
HSD3B2, LOC109029530 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary hyperoxaluria, type I 196 24 60 4 2 286
Primary hyperoxaluria type 3 37 34 15 0 0 86
Primary hyperoxaluria, type II 32 13 14 1 1 61
CYP11B2-related disorder 11 9 2 0 0 22
Deficiency of steroid 11-beta-monooxygenase 6 9 3 0 0 18
Testosterone 17-beta-dehydrogenase deficiency 7 7 0 0 0 14
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 13 0 0 0 0 13
3 beta-Hydroxysteroid dehydrogenase deficiency 5 2 1 0 0 8
Androgen resistance syndrome 1 4 0 1 0 6
Corticosterone methyloxidase type 2 deficiency 2 0 0 0 0 2
Deficiency of steroid 17-alpha-monooxygenase 1 0 1 0 0 2
Corticosterone 18-monooxygenase deficiency 0 0 1 0 0 1
Early-onset familial hypoaldosteronism 0 1 0 0 0 1
glycolate oxidase deficiency 1 0 0 0 0 1

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