ClinVar Miner

Variants from Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital

Location: China  Primary collection method: clinical testing
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
19 31 1 0 0 51

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SMPD1 12 27 1 40
GALNS 6 4 0 10
LOC130005193, SMPD1 1 0 0 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic likely pathogenic uncertain significance total
Niemann-Pick disease, type B; Niemann-Pick disease, type A 13 27 1 41
Mucopolysaccharidosis, MPS-IV-A 6 4 0 10

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