ClinVar Miner

List of variants studied for specific language disorder by GeneReviews

Included ClinVar conditions (1):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) rs201649896 0.00034
NM_014491.4(FOXP2):c.1789A>C (p.Asn597His) rs766476648 0.00001
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
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv
NC_000007.13:g.109049659_111130658del
NM_014491.4(FOXP2):c.1168_1169del (p.Gln390fs) rs879253771
NM_014491.4(FOXP2):c.1217T>C (p.Met406Thr) rs1343377230
NM_014491.4(FOXP2):c.1432C>T (p.Arg478Ter) rs1474090446
NM_014491.4(FOXP2):c.1514C>T (p.Pro505Leu) rs758513311
NM_014491.4(FOXP2):c.1591T>C (p.Tyr531His) rs879253772
NM_014491.4(FOXP2):c.1607G>C (p.Arg536Pro) rs758427088
NM_014491.4(FOXP2):c.1614del (p.Phe538fs) rs2129341028
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.483ACAACAGCAGCA[3] (p.Gln188_Gln191dup) rs761316361
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)
t(7;13)(q31.1;q13.2)

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