ClinVar Miner

Variants from Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital

Location: Indonesia  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 likely risk allele total
3 0 0 0 0 1 4

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely risk allele total
KCNH2 2 0 2
CYP27B1 0 1 1
SCN5A 1 0 1

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely risk allele total
Congenital long QT syndrome 1 0 1
Long QT syndrome 1 0 1
Vitamin D-dependent rickets, type 1A 0 1 1
not provided 1 0 1

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