ClinVar Miner

List of variants studied for cortical dysplasia-focal epilepsy syndrome by New York Genome Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271 0.00086
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile) rs147447659 0.00029
NM_014141.6(CNTNAP2):c.102A>C (p.Lys34Asn) rs779436784 0.00003
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245 0.00001
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210 0.00001
NM_014141.6(CNTNAP2):c.2384-4637del rs2116601181
NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr) rs796052382

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