ClinVar Miner

List of variants in gene FOXP2 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_014491.4(FOXP2):c.741C>T (p.Gly247=) rs61732741 0.01128
NM_014491.4(FOXP2):c.531A>G (p.Gln177=) rs111801240 0.01115
NM_014491.4(FOXP2):c.570A>G (p.Gln190=) rs61758964 0.01012
NM_014491.4(FOXP2):c.552A>G (p.Gln184=) rs146945410 0.00209
NM_014491.4(FOXP2):c.1843G>A (p.Ala615Thr) rs182138317 0.00058
NM_014491.4(FOXP2):c.483A>G (p.Gln161=) rs62640396 0.00057
NM_014491.4(FOXP2):c.1371T>C (p.Ile457=) rs61753357 0.00046
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) rs201649896 0.00034
NM_014491.4(FOXP2):c.1920C>T (p.Ala640=) rs147851941 0.00026
NM_014491.4(FOXP2):c.1431G>A (p.Arg477=) rs148518030 0.00024
NM_014491.4(FOXP2):c.2100A>T (p.Glu700Asp) rs147624408 0.00016
NM_014491.4(FOXP2):c.598-1G>C rs752704782 0.00009
NM_014491.4(FOXP2):c.1758A>G (p.Gln586=) rs776108587 0.00008
NM_014491.4(FOXP2):c.564G>A (p.Gln188=) rs746754336 0.00006
NM_014491.4(FOXP2):c.1320A>G (p.Pro440=) rs759778893 0.00005
NM_014491.4(FOXP2):c.1569G>A (p.Arg523=) rs376776032 0.00005
NM_014491.4(FOXP2):c.2103C>T (p.Asp701=) rs559347815 0.00005
NM_014491.4(FOXP2):c.1686T>C (p.Phe562=) rs372567072 0.00004
NM_014491.4(FOXP2):c.1856G>A (p.Ser619Asn) rs757373725 0.00003
NM_014491.4(FOXP2):c.1182+4T>A rs768484979 0.00002
NM_014491.4(FOXP2):c.946A>G (p.Ile316Val) rs563897082 0.00002
NM_014491.4(FOXP2):c.879T>C (p.Thr293=) rs759878344 0.00001
NM_014491.4(FOXP2):c.921A>G (p.Ala307=) rs1563054014 0.00001
NM_014491.3(FOXP2):c.618_620delGCA
NM_014491.3(FOXP2):c.618_620dupGCA
NM_014491.4(FOXP2):c.1005G>A (p.Glu335=)
NM_014491.4(FOXP2):c.1031del (p.Gly344fs) rs1805777437
NM_014491.4(FOXP2):c.1127_1128insT (p.Ser377fs)
NM_014491.4(FOXP2):c.1139A>T (p.Gln380Leu)
NM_014491.4(FOXP2):c.1182G>A (p.Gln394=) rs1563060548
NM_014491.4(FOXP2):c.125C>G (p.Ser42Cys)
NM_014491.4(FOXP2):c.1343C>T (p.Thr448Ile) rs1563064505
NM_014491.4(FOXP2):c.1434A>T (p.Arg478=) rs201343293
NM_014491.4(FOXP2):c.1459A>G (p.Met487Val)
NM_014491.4(FOXP2):c.1462T>G (p.Ser488Ala) rs201320940
NM_014491.4(FOXP2):c.154C>T (p.Leu52=)
NM_014491.4(FOXP2):c.1770-4dup rs398005923
NM_014491.4(FOXP2):c.1770-5_1770-4dup
NM_014491.4(FOXP2):c.197T>G (p.Leu66Ter) rs1554412300
NM_014491.4(FOXP2):c.1998G>C (p.Pro666=)
NM_014491.4(FOXP2):c.21A>G (p.Thr7=)
NM_014491.4(FOXP2):c.288C>T (p.Pro96=)
NM_014491.4(FOXP2):c.381T>C (p.Ala127=)
NM_014491.4(FOXP2):c.382G>T (p.Val128Phe)
NM_014491.4(FOXP2):c.477_534delinsACAACAGCAGCAGCAACAACAACAACAACAACAGCAGCAG (p.Gln186_Gln191del)
NM_014491.4(FOXP2):c.483ACAACAGCAGCA[1] (p.Gln188_Gln191del)
NM_014491.4(FOXP2):c.501_515del (p.Gln187_Gln191del)
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del) rs398124272
NM_014491.4(FOXP2):c.517C>A (p.Gln173Lys) rs564204446
NM_014491.4(FOXP2):c.519ACAACAGCAGCA[1] (p.Gln188_Gln191del)
NM_014491.4(FOXP2):c.525G>A (p.Gln175=)
NM_014491.4(FOXP2):c.537GCA[6] (p.Gln191_His192insGln)
NM_014491.4(FOXP2):c.540GCAGCAGCAGCAACAGCA[1] (p.Gln186_Gln191del) rs772134830
NM_014491.4(FOXP2):c.567_575dup (p.Gln191_His192insGlnGlnGln)
NM_014491.4(FOXP2):c.660G>C (p.Gln220His)
NM_014491.4(FOXP2):c.898A>G (p.Thr300Ala)
NM_014491.4(FOXP2):c.89G>A (p.Gly30Asp)
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) rs121908378

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