ClinVar Miner

Variants from Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University

Location: China  Primary collection method: research
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
59 13 0 0 0 72

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic total
SPTB 30 1 31
ANK1 17 1 18
SLC4A1 6 6 12
SPTA1 3 4 7
EPB42 2 1 3
ANK1, LOC126860368 1 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic total
Hereditary spherocytosis type 2 30 1 31
Hereditary spherocytosis type 1 18 1 19
Hereditary spherocytosis type 4 6 6 12
Hereditary spherocytosis type 3 3 4 7
Hereditary spherocytosis type 5 2 1 3
Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosis 1 0 1

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