ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy

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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
236 77 849 153 23 1336

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SCN1A 74 26 93 11 1 205
LOC102724058, SCN1A 64 19 108 8 1 200
KCNQ2 46 11 93 20 1 170
SPTAN1 0 2 107 27 3 139
SCN8A 4 4 96 21 3 128
CACNA2D2 4 1 53 15 1 74
ARHGEF15 0 1 64 2 3 70
STXBP1 25 5 22 9 2 63
HCN1 0 1 46 12 1 60
KCNH5 1 0 41 12 2 56
CACNA2D2, CYB561D2 1 0 41 4 1 47
SLC25A22 3 0 38 4 2 47
GNAO1 6 2 14 4 1 27
ST3GAL3 0 0 21 3 1 25
LOC114803470, SCN8A 0 0 6 1 0 7
GOT2 0 4 0 0 0 4
CSRNP3, GALNT3, LOC100506124, LOC102724058, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 3 0 0 0 0 3
PIGP 0 0 2 0 0 2
AK1, C9orf16, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, ENG, FAM102A, FPGS, GLE1, GOLGA2, LCN2, LOC102723566, LOC106783495, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC113839516, LOC113839517, LOC113839524, LOC114827831, LOC116216099, LOC116216100, MIR199B, MIR219A2, MIR219B, MIR2861, MIR3154, MIR3911, MIR3960, MIR4672, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRR-TCT3-1, TRUB2, TTC16, URM1 1 0 0 0 0 1
CDKL5 1 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2, PPDPF 1 0 0 0 0 1
CSRNP3, GALNT3, LOC100506124, LOC102724058, SCN1A, SCN2A, SCN9A, TTC21B 0 0 1 0 0 1
EEF1A2, KCNQ2 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
NPHP3-ACAD11, UBA5 1 0 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: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 233 72 846 153 23 1325
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 7
TIDEX, University of British Columbia 0 4 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 0 0 2
Care4Rare-SOLVE, CHEO 0 0 2 0 0 2
OMIM 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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