ClinVar Miner

List of variants in gene CNTNAP2 reported as uncertain significance for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter) rs371642222 0.00001
NC_000007.14:g.(?_148411122)_(148421361_?)dup
NM_014141.6(CNTNAP2):c.1348+54355_1348+54568del
NM_014141.6(CNTNAP2):c.1498+47142_1498+47201del
NM_014141.6(CNTNAP2):c.3679G>A (p.Ala1227Thr) rs761684414
NM_014141.6(CNTNAP2):c.682G>A (p.Gly228Arg) rs371512835
Single allele

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