ClinVar Miner

Variants studied for X-linked nonsyndromic deafness

Included ClinVar conditions (9):
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 not provided total
52 17 5 1 0 1 72

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
GJB2 15 2 3 0 0 20
AIFM1, RAB33A 5 14 1 1 0 18
POU3F4 17 0 0 0 1 17
PRPS1 7 0 0 0 0 7
SMPX 6 1 0 0 0 7
GJB6 1 0 1 0 0 2
COL4A6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
OMIM 28 0 0 0 0 28
Fulgent Genetics 16 2 5 0 0 23
Deafness Gene Diagnosis,Xijing Hospital 0 14 0 1 0 15
Molecular Genetics and RNA Biology,University of Milan 2 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 1
Yong Feng Lab,Central South University 1 0 0 0 0 1
Laboratory of Molecular Genetics,Yakut Science Centre of Complex Medical Problems 1 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 1 0 0 0 0 1

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