ClinVar Miner

Variants studied for DDOST-congenital disorder of glycosylation

Included ClinVar conditions (1):
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
3 1 89 54 22 2 170

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DDOST 3 1 88 54 19 2 166
DDOST, PINK1 0 0 0 0 3 0 3
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, DDOST, ECE1, EIF4G3, EMC1, EPHA8, FAM43B, HP1BP3, HSPG2, HTR6, IFFO2, KIF17, LDLRAD2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, NBL1, NBPF3, OTUD3, PINK1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, RAP1GAP, RNF186, SH2D5, SLC66A1, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 88 54 20 0 162
Genome-Nilou Lab 0 0 0 0 4 0 4
OMIM 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1

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