ClinVar Miner

List of variants in gene FOXP2 reported as pathogenic for childhood apraxia of speech

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
7q22-q31.3 deletion (15 Mb)
7q22-q31.33, 22 Mb deletion
7q31.1-q31.2, 1.57 Mb deletion
7q31.1-q31.2, 6.5 Mb deletion
7q31.1-q31.2, 9.1 Mb deletion
7q31.1-q31.3, 11 Mb deletion
7q31.1-q31.3, 14.8 Mb deletion
7q31.1-q31.3, 15 Mb deletion
7q31.1-q31.3, 16 Mb deletion
7q31.2-q32, 13 Mb deletion
7q31.2-q32, 14 Mb deletion
7q31.2-q32, 15 Mb deletion
7q31.2-q32, 26 Mb deletion
NC_000007.12:g.111781517_120142536del
NC_000007.12:g.112946520_114520576del
NM_014491.4(FOXP2):c.1426C>T (p.Arg476Ter) rs1178491246
NM_014491.4(FOXP2):c.1432C>T (p.Arg478Ter) rs1474090446
NM_014491.4(FOXP2):c.1540del (p.Arg514fs)
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His) rs121908377
NM_014491.4(FOXP2):c.1690C>T (p.Arg564Ter) rs2129341954
NM_014491.4(FOXP2):c.553C>T (p.Gln185Ter) rs1584969672
NM_014491.4(FOXP2):c.559C>T (p.Gln187Ter) rs2129327570
NM_014491.4(FOXP2):c.586C>T (p.Gln196Ter) rs1347299046
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) rs121908378
Uniparental disomy of chromosome 7
t(3;7)(q23;q31.2)
t(5;7)(q22;q31.2)

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