ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy

Coded as:
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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
164 56 609 400 225 1454

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SPTAN1 0 1 86 74 46 207
KCNQ2 30 9 63 47 29 178
SCN1A 54 17 66 25 12 174
LOC102724058, SCN1A 42 17 74 23 16 172
SCN8A 4 4 61 45 20 134
ARHGEF15 0 1 44 18 25 88
CACNA2D2 3 0 38 35 7 83
HCN1 0 1 38 32 12 83
STXBP1 19 4 20 20 15 78
KCNH5 0 0 33 25 14 72
SLC25A22 3 0 26 18 9 56
CACNA2D2, CYB561D2 0 0 31 13 5 49
GNAO1 5 1 9 12 7 34
ST3GAL3 0 0 13 10 5 28
LOC114803470, SCN8A 0 0 2 2 2 6
DKFZP434H168, GNAO1 0 0 0 1 1 2
PIGP 0 0 2 0 0 2
CDKL5 1 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2, PPDPF 1 0 0 0 0 1
CSRNP3, GALNT3, LOC100506124, LOC102724058, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 1 0 0 0 0 1
EEF1A2, KCNQ2, PPDPF, PTK6 1 0 0 0 0 1
GABRA2 0 0 1 0 0 1
MIR3911, STXBP1 0 1 0 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SPTAN1, WDR34 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 163 55 605 400 225 1448
Fulgent Genetics 0 0 7 0 0 7
Care4Rare,CHEO 0 0 2 0 0 2
OMIM 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 0 1 0 0 1

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