ClinVar Miner

List of variants studied for childhood apraxia of speech

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_014491.4(FOXP2):c.*2265G>T rs12705977 0.33362
NM_014491.4(FOXP2):c.*3683C>T rs1058335 0.16716
NM_004934.5(CDH18):c.991T>C (p.Leu331=) rs17285716 0.14440
NM_014491.4(FOXP2):c.*3822C>T rs10244649 0.12102
NM_014491.4(FOXP2):c.*2017G>A rs75054333 0.03180
NM_014491.4(FOXP2):c.*205_*206insC rs766446822 0.02729
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys) rs76187047 0.01292
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.*2253A>T rs73210755 0.00936
NM_014491.4(FOXP2):c.-99G>A rs116320717 0.00774
NM_014491.4(FOXP2):c.*3199G>A rs149254099 0.00537
NM_014491.4(FOXP2):c.*3624T>G rs540406830 0.00376
NM_014491.4(FOXP2):c.*3563C>T rs148596176 0.00342
NM_014491.4(FOXP2):c.1468+9T>C rs75753538 0.00294
NM_014491.4(FOXP2):c.*80A>G rs550961565 0.00239
NM_014491.4(FOXP2):c.552A>G (p.Gln184=) rs146945410 0.00209
NM_014491.4(FOXP2):c.*2082A>G rs145961115 0.00203
NM_014491.4(FOXP2):c.*998A>G rs181206486 0.00136
NM_014491.4(FOXP2):c.*3517T>C rs79694890 0.00123
NM_014491.4(FOXP2):c.*207T>C rs776533754 0.00109
NM_014491.4(FOXP2):c.*3466G>A rs544350916 0.00108
NM_014491.4(FOXP2):c.*2571C>T rs575232403 0.00094
NM_014491.4(FOXP2):c.*276A>G rs531205756 0.00092
NM_014491.4(FOXP2):c.-170T>C rs117662905 0.00086
NM_014491.4(FOXP2):c.*2922T>G rs544333798 0.00060
NM_014491.4(FOXP2):c.*2018A>G rs768026922 0.00056
NM_014491.4(FOXP2):c.-335A>G rs531957198 0.00049
NM_014491.4(FOXP2):c.1371T>C (p.Ile457=) rs61753357 0.00046
NM_014491.4(FOXP2):c.1770-14A>T rs554154151 0.00043
NM_014491.4(FOXP2):c.*1868T>C rs760021288 0.00041
NM_014491.4(FOXP2):c.*236A>G rs775524542 0.00038
NM_014491.4(FOXP2):c.*3457G>A rs190599917 0.00036
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) rs201649896 0.00034
NM_014491.4(FOXP2):c.*206T>C rs563988777 0.00033
NM_014491.4(FOXP2):c.*515A>T rs150361315 0.00032
NM_014491.4(FOXP2):c.*319A>G rs141343189 0.00031
NM_014491.4(FOXP2):c.*1944C>T rs142461550 0.00030
NM_014491.4(FOXP2):c.1266+8C>T rs139649711 0.00030
NM_014491.4(FOXP2):c.1937A>G (p.Asn646Ser) rs145154396 0.00026
NM_014491.4(FOXP2):c.*3749C>A rs188138100 0.00025
NM_014491.4(FOXP2):c.1431G>A (p.Arg477=) rs148518030 0.00024
NM_014491.4(FOXP2):c.*2302G>A rs192272516 0.00021
NM_014491.4(FOXP2):c.*2818G>C rs532545326 0.00020
NM_014491.4(FOXP2):c.*3643T>C rs536004145 0.00019
NM_014491.4(FOXP2):c.*2029A>G rs769993562 0.00017
NM_014491.4(FOXP2):c.*366G>A rs745872209 0.00015
NM_014491.4(FOXP2):c.1770-12T>A rs771960652 0.00014
NM_014491.4(FOXP2):c.*1947C>T rs777110115 0.00013
NM_014491.4(FOXP2):c.*1524C>T rs537398392 0.00011
NM_014491.4(FOXP2):c.*1969T>A rs771063685 0.00011
NM_014491.4(FOXP2):c.*208T>C rs745705171 0.00011
NM_014491.4(FOXP2):c.*832A>C rs769641895 0.00010
NM_014491.4(FOXP2):c.*2017del rs377464931 0.00009
NM_014491.4(FOXP2):c.598-10C>T rs369461083 0.00009
NM_014491.4(FOXP2):c.598-1G>C rs752704782 0.00009
NM_014491.4(FOXP2):c.*2489A>C rs886061930 0.00008
NM_014491.4(FOXP2):c.*1945G>A rs185964187 0.00007
NM_014491.4(FOXP2):c.1494T>C (p.Tyr498=) rs191237950 0.00007
NM_014491.4(FOXP2):c.1264C>T (p.Pro422Ser) rs751931499 0.00006
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.*1598G>A rs753075964 0.00004
NM_014491.4(FOXP2):c.1686T>C (p.Phe562=) rs372567072 0.00004
NM_014491.4(FOXP2):c.*1826G>A rs771404418 0.00003
NM_014491.4(FOXP2):c.*1964C>T rs762401218 0.00003
NM_014491.4(FOXP2):c.*2558A>G rs886061931 0.00003
NM_014491.4(FOXP2):c.*3423C>T rs117309491 0.00003
NM_014491.4(FOXP2):c.-14G>T rs759420480 0.00003
NM_014491.4(FOXP2):c.-293C>T rs773664240 0.00003
NM_014491.4(FOXP2):c.1856G>A (p.Ser619Asn) rs757373725 0.00003
NM_014491.4(FOXP2):c.258+15661C>T rs1339286790 0.00003
NM_014491.4(FOXP2):c.*1210A>G rs886061927 0.00002
NM_014491.4(FOXP2):c.*250A>G rs368786145 0.00002
NM_014491.4(FOXP2):c.*3235T>C rs886061934 0.00002
NM_014491.4(FOXP2):c.*388G>A rs750669536 0.00002
NM_014491.4(FOXP2):c.892T>G (p.Ser298Ala) rs138374374 0.00002
NM_014491.4(FOXP2):c.*107A>G rs763037482 0.00001
NM_014491.4(FOXP2):c.*1222G>C rs1319688291 0.00001
NM_014491.4(FOXP2):c.*1675C>A rs886061928 0.00001
NM_014491.4(FOXP2):c.*1701A>C rs886061929 0.00001
NM_014491.4(FOXP2):c.*285T>C rs886061923 0.00001
NM_014491.4(FOXP2):c.*3220A>C rs886061933 0.00001
NM_014491.4(FOXP2):c.*3608A>G rs886061936 0.00001
NM_014491.4(FOXP2):c.*3736C>A rs886061937 0.00001
NM_014491.4(FOXP2):c.*956G>A rs886061926 0.00001
NM_014491.4(FOXP2):c.-16G>A rs886061914 0.00001
NM_014491.4(FOXP2):c.-290A>C rs1166508172 0.00001
NM_014491.4(FOXP2):c.1050G>A (p.Trp350Ter) rs1349250538 0.00001
NM_014491.4(FOXP2):c.124T>C (p.Ser42Pro) rs942638508 0.00001
NM_014491.4(FOXP2):c.1344C>T (p.Thr448=) rs1283357982 0.00001
NM_014491.4(FOXP2):c.1352C>T (p.Thr451Met) rs199776572 0.00001
NM_014491.4(FOXP2):c.1441G>A (p.Asp481Asn) rs755825043 0.00001
NM_014491.4(FOXP2):c.1789A>C (p.Asn597His) rs766476648 0.00001
NM_014491.4(FOXP2):c.342T>C (p.Ser114=) rs886061915 0.00001
NM_014491.4(FOXP2):c.522A>G (p.Gln174=) rs368614280 0.00001
NM_014491.4(FOXP2):c.52A>G (p.Asn18Asp) rs763263115 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
GRCh37/hg19 7q31.1(chr7:113925160..113934427)x1
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_014491.3(FOXP2):c.618_620dupGCA
NM_014491.4(FOXP2):c.*1415A>T rs1808658457
NM_014491.4(FOXP2):c.*1585T>C rs1808664980
NM_014491.4(FOXP2):c.*188CTT[5] rs770516756
NM_014491.4(FOXP2):c.*2030del rs750710459
NM_014491.4(FOXP2):c.*203_*204del rs886061918
NM_014491.4(FOXP2):c.*2191C>T rs114784365
NM_014491.4(FOXP2):c.*219_*220del rs398005924
NM_014491.4(FOXP2):c.*220del rs398005924
NM_014491.4(FOXP2):c.*2261T>C rs1808704401
NM_014491.4(FOXP2):c.*229dup rs543811999
NM_014491.4(FOXP2):c.*2449A>G rs1808712530
NM_014491.4(FOXP2):c.*260del rs752684219
NM_014491.4(FOXP2):c.*260dup rs752684219
NM_014491.4(FOXP2):c.*2965T>C rs530179782
NM_014491.4(FOXP2):c.*2970T>A rs886061932
NM_014491.4(FOXP2):c.*3279_*3280dup rs777898958
NM_014491.4(FOXP2):c.*3414G>C rs1036408992
NM_014491.4(FOXP2):c.*449_*451del rs886061924
NM_014491.4(FOXP2):c.*686A>G rs1808616479
NM_014491.4(FOXP2):c.*708T>G rs886061925
NM_014491.4(FOXP2):c.*96A>G rs765304609
NM_014491.4(FOXP2):c.-222C>A rs761418050
NM_014491.4(FOXP2):c.1168_1169del (p.Gln390fs) rs879253771
NM_014491.4(FOXP2):c.11A>G (p.Glu4Gly) rs1793857952
NM_014491.4(FOXP2):c.1217T>C (p.Met406Thr) rs1343377230
NM_014491.4(FOXP2):c.1276G>T (p.Val426Leu)
NM_014491.4(FOXP2):c.131T>C (p.Val44Ala) rs1283187808
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.1462T>G (p.Ser488Ala) rs201320940
NM_014491.4(FOXP2):c.1514C>T (p.Pro505Leu) rs758513311
NM_014491.4(FOXP2):c.1540del (p.Arg514fs)
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.1657C>T (p.Arg553Cys)
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His) rs121908377
NM_014491.4(FOXP2):c.165G>A (p.Gln55=) rs766616577
NM_014491.4(FOXP2):c.1661A>G (p.His554Arg)
NM_014491.4(FOXP2):c.1690C>T (p.Arg564Ter) rs2129341954
NM_014491.4(FOXP2):c.1719G>A (p.Trp573Ter)
NM_014491.4(FOXP2):c.1769+2T>C rs1135401820
NM_014491.4(FOXP2):c.1770-4dup rs398005923
NM_014491.4(FOXP2):c.1794A>G (p.Ile598Met)
NM_014491.4(FOXP2):c.183A>G (p.Ala61=) rs747126499
NM_014491.4(FOXP2):c.1982G>A (p.Gly661Asp) rs529427719
NM_014491.4(FOXP2):c.199C>G (p.Gln67Glu) rs759949520
NM_014491.4(FOXP2):c.258+13C>G rs1799294727
NM_014491.4(FOXP2):c.258+36173G>A rs747951230
NM_014491.4(FOXP2):c.361C>T (p.Leu121Phe)
NM_014491.4(FOXP2):c.447G>C (p.Gln149His) rs1804788563
NM_014491.4(FOXP2):c.483ACAACAGCAGCA[3] (p.Gln188_Gln191dup) rs761316361
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del) rs398124272
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.693G>T (p.Gln231His)
NM_014491.4(FOXP2):c.774A>G (p.Gln258=)
NM_014491.4(FOXP2):c.962C>T (p.Ser321Phe) rs944127085
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) rs121908378
NM_014491.4(FOXP2):c.988A>T (p.Ser330Cys) rs886061916
NM_014491.4(FOXP2):c.989+6T>A rs1805599792
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met) rs61745597
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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