ClinVar Miner

Variants studied for Ehlers-Danlos syndrome

Coded as:
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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 not provided total
16 41 609 274 258 1 1198

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ZNF469 0 3 123 55 34 0 215
TNXB 0 7 107 31 48 0 193
FBN2 0 1 34 31 36 0 102
COL5A1 5 5 35 34 18 0 97
COL1A1 2 0 37 24 16 0 79
ADAMTS2 0 0 47 12 14 0 73
COL3A1 1 7 26 10 13 0 56
COL5A2 0 1 27 12 16 0 56
COL1A2 2 9 26 6 6 0 49
PLOD1 2 2 18 4 10 0 36
PRDM5 1 0 20 4 5 0 30
COL5A1, LOC101448202 1 2 8 9 6 1 27
ATP7A 0 0 11 11 4 0 26
SMAD3 1 1 11 3 2 0 18
TGFBR1 0 0 11 1 6 0 18
TGFBR2 0 1 5 5 6 0 17
DSE 0 0 9 2 5 0 16
LOC106780803, TNXB 0 1 9 3 3 0 16
TGFB2 1 0 3 8 3 0 15
SLC39A13 0 0 10 2 2 0 14
B4GALT7 0 0 12 0 1 0 13
CHST14 0 0 5 2 0 0 7
FKBP14 0 0 3 3 1 0 7
FBN2, LOC126807501 0 0 2 2 2 0 6
COL1A1, LOC126862586 0 0 4 0 1 0 5
B4GALT7, LOC129995400 0 0 1 0 0 0 1
C1R 0 1 0 0 0 0 1
CYP21A2, LOC106780803, TNXB 0 0 1 0 0 0 1
FLNA 0 0 1 0 0 0 1
LOC130002223, TGFBR1 0 0 1 0 0 0 1
LOC130057352, SMAD3 0 0 1 0 0 0 1
LOC130059719, ZNF469 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome Diagnostics Laboratory, The Hospital for Sick Children 14 32 607 274 257 0 1184
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 6 0 0 0 0 8
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Department of Periodontology, Nanjing Stomatological Hospital, Medical School of Nanjing University 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1

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