ClinVar Miner

Variants from Shanghain Institute for Pediatric Research

Location: China — Primary collection method: not provided
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
15 0 0 0 0 15

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic total
NPC1 14 14
NPC2 1 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic total
Niemann-Pick disease type C1 14 14
Niemann-Pick disease type C2 1 1

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