ClinVar Miner

Variants studied for Autosomal dominant nocturnal frontal lobe epilepsy

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
6 3 863 883 96 4 1854

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHRNA4 2 0 283 354 47 0 686
CHRNA2 0 0 270 256 21 0 547
CHRNB2 3 0 237 198 18 1 456
CHRNA4, LOC126863087 0 0 21 38 4 0 63
CHRNA4, LOC100130587 0 0 23 31 6 0 60
CHRNB2, LOC129931511 0 0 13 6 0 0 19
CHRNA4, KCNQ2 0 0 7 0 0 0 7
GABRG2 0 3 0 0 0 0 3
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 0 0 2 0 0 0 2
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 2 0 0 0 2
CRH 0 0 0 0 0 2 2
DEPDC5 1 0 1 0 0 0 2
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC2A4RG, SOX18, SRMS, STMN3, TNFRSF6B, TPD52L2, UCKL1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 1
ADAR, CHRNB2 0 0 1 0 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, EEF1A2, GID8, HAR1A, HAR1B, KCNQ2, NKAIN4, SLC17A9, TCFL5, YTHDF1 0 0 1 0 0 0 1
CCDC25, CHRNA2, CLU, ELP3, EPHX2, ESCO2, EXTL3, FBXO16, FZD3, NUGGC, PBK, PNOC, SCARA3, SCARA5, ZNF395 0 0 1 0 0 0 1
CRH, LOC130000523 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 5 0 862 883 96 0 1846
GeneReviews 0 0 0 0 0 3 3
Wen Jiang Lab, Comprehensive Epilepsy Center, Xijing Hospital 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 1 0 0 0 1

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