ClinVar Miner

Variants from Research Group Niklas Dahl, Uppsala University

Location: Sweden  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
5 5 0 0 0 10

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic total
NCDN 0 4 4
CATSPER2, CKMT1A, CKMT1B, LOC130056948, LOC130056949, STRC 1 0 1
GRID2 1 0 1
ITPR1 1 0 1
RPS7 0 1 1
RTTN 1 0 1
STRC 1 0 1

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic total
Autosomal recessive nonsyndromic hearing loss 16 2 0 2
Cerebellar ataxia; Intellectual disability; Neurodevelopmental delay 0 2 2
Autosomal recessive spinocerebellar ataxia 18 1 0 1
Diamond-Blackfan anemia 8 0 1 1
Intellectual disability; Neurodevelopmental delay 0 1 1
Microcephalic primordial dwarfism due to RTTN deficiency 1 0 1
Seizure; Intellectual disability; Neurodevelopmental delay 0 1 1
Spinocerebellar ataxia type 29 1 0 1

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