List of variants reported as uncertain significance for Cortical dysplasia-focal epilepsy syndrome by St. Anna Children's Cancer Research Institute (CCRI)

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly)	rs139694086	0.00021
NM_014141.6(CNTNAP2):c.2449G>A (p.Gly817Arg)	rs140239461	0.00006
GRCh38/hg38 7q35(chr7:147977862-147977989)x1
NM_014141.6(CNTNAP2):c.1628del (p.Ser543fs)
NM_014141.6(CNTNAP2):c.3814A>T (p.Ile1272Phe)
NM_014141.6(CNTNAP2):c.550+5G>T	rs1799308778

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