ClinVar Miner

Variants from Precision Medicine Center, Zhengzhou University

Location: China  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
46 56 19 0 0 121

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
COL4A5 15 13 3 31
SLC26A4 10 3 0 13
COL4A3, MFF-DT 1 7 1 9
LAMA5 0 8 0 8
EYA1 5 1 0 6
COQ8B 1 1 3 5
PAX2 1 4 0 5
TTC21B 1 1 2 4
TRPC6 0 1 2 3
APOE 0 2 0 2
COL4A4 0 1 1 2
HARS2 0 2 0 2
LARS2 1 1 0 2
LOC123956210, SLC26A4 1 1 0 2
MITF 1 1 0 2
NPHS2 0 0 2 2
NUP160 1 0 1 2
PAX3 2 0 0 2
POLR2F, SOX10 2 0 0 2
POU3F4 2 0 0 2
TMEM67 0 0 2 2
UMOD 0 2 0 2
ANLN 0 0 1 1
GLA, RPL36A-HNRNPH2 0 1 0 1
ITGB4 1 0 0 1
KIRREL2, NPHS1 0 0 1 1
NPHP3, NPHP3-ACAD11 0 1 0 1
NPHS1 0 1 0 1
POLD1 0 1 0 1
RMND1 0 1 0 1
SIX1 0 1 0 1
TMC1 0 1 0 1
WT1 1 0 0 1

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance total
X-linked Alport syndrome 15 13 3 31
Autosomal recessive nonsyndromic hearing loss 4 11 4 0 15
Autosomal recessive Alport syndrome 0 6 2 8
Nephrotic syndrome 0 8 0 8
Branchiootic syndrome 1 5 1 0 6
Nephrotic syndrome, type 9 1 1 3 5
Nephronophthisis 12 1 1 2 4
Autosomal dominant Alport syndrome 1 2 0 3
Focal segmental glomerulosclerosis 2 0 1 2 3
Renal coloboma syndrome 0 3 0 3
Familial juvenile hyperuricemic nephropathy type 1 0 2 0 2
Finnish congenital nephrotic syndrome 0 1 1 2
Focal segmental glomerulosclerosis 7 1 1 0 2
Lipoprotein glomerulopathy 0 2 0 2
Nephronophthisis 11 0 0 2 2
Nephrotic syndrome, type 19 1 0 1 2
Nephrotic syndrome, type 2 0 0 2 2
Perrault syndrome 2 0 2 0 2
Perrault syndrome 4 1 1 0 2
Waardenburg syndrome type 1 2 0 0 2
Waardenburg syndrome type 2A 1 1 0 2
Waardenburg syndrome type 2E 2 0 0 2
X-linked mixed hearing loss with perilymphatic gusher 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 7 0 1 0 1
Branchiootic syndrome 3 0 1 0 1
Combined oxidative phosphorylation defect type 11 0 1 0 1
Epidermolysis bullosa simplex 1C, localized 1 0 0 1
Fabry disease 0 1 0 1
Focal segmental glomerulosclerosis 8 0 0 1 1
Mandibular hypoplasia-deafness-progeroid syndrome 0 1 0 1
Nephronophthisis 3 0 1 0 1
Nephrotic syndrome, type 4 1 0 0 1

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