ClinVar Miner

List of variants in gene DOCK7 reported as pathogenic for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367561.1(DOCK7):c.1501C>T (p.Arg501Ter) rs1174717913 0.00001
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs) rs770283117 0.00001
NM_001367561.1(DOCK7):c.6265G>T (p.Glu2089Ter) rs587777485 0.00001
NC_000001.10:g.(?_62971367)_62980255del
NC_000001.11:g.62510670CT[1]
NC_000001.11:g.62510670CT[2]
NM_001367561.1(DOCK7):c.1083del (p.Tyr362fs)
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001367561.1(DOCK7):c.1290del (p.Ser432fs)
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001367561.1(DOCK7):c.1725del (p.Arg576fs) rs2149499164
NM_001367561.1(DOCK7):c.191_195delinsA (p.Leu64fs) rs1557864817
NM_001367561.1(DOCK7):c.2106_2107dup (p.Pro703fs) rs2149480897
NM_001367561.1(DOCK7):c.2112+2T>C rs2149480893
NM_001367561.1(DOCK7):c.2278C>T (p.Arg760Ter)
NM_001367561.1(DOCK7):c.2359C>T (p.Arg787Ter)
NM_001367561.1(DOCK7):c.2479C>T (p.Arg827Ter)
NM_001367561.1(DOCK7):c.2510del (p.Asp837fs) rs886037665
NM_001367561.1(DOCK7):c.2615del (p.Gly872fs)
NM_001367561.1(DOCK7):c.2683C>T (p.Arg895Ter) rs1450310137
NM_001367561.1(DOCK7):c.2869C>T (p.Arg957Ter)
NM_001367561.1(DOCK7):c.3132_3133del (p.Ile1045fs) rs2149393749
NM_001367561.1(DOCK7):c.3159del (p.Ser1054fs)
NM_001367561.1(DOCK7):c.3247_3248insGGACAGATGT (p.Ser1083fs)
NM_001367561.1(DOCK7):c.3408dup (p.Pro1137fs)
NM_001367561.1(DOCK7):c.3709C>T (p.Arg1237Ter) rs587777484
NM_001367561.1(DOCK7):c.3937-686_4597del
NM_001367561.1(DOCK7):c.3976C>T (p.Arg1326Ter) rs756535975
NM_001367561.1(DOCK7):c.4128del (p.Val1377fs) rs2149340429
NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter) rs1479675678
NM_001367561.1(DOCK7):c.4141dup (p.Met1381fs)
NM_001367561.1(DOCK7):c.4237C>T (p.Arg1413Ter) rs1223056056
NM_001367561.1(DOCK7):c.4243C>T (p.Arg1415Ter)
NM_001367561.1(DOCK7):c.443_446del (p.Glu148fs) rs1438270423
NM_001367561.1(DOCK7):c.453dup (p.Gly152fs)
NM_001367561.1(DOCK7):c.4675C>T (p.Arg1559Ter)
NM_001367561.1(DOCK7):c.4682_4683del (p.His1560_Cys1561insTer) rs2149320961
NM_001367561.1(DOCK7):c.4783del (p.Met1595fs) rs1553156203
NM_001367561.1(DOCK7):c.5059C>T (p.Arg1687Ter) rs2149298999
NM_001367561.1(DOCK7):c.5306_5310del (p.Tyr1768_Phe1769insTer)
NM_001367561.1(DOCK7):c.5338C>T (p.Gln1780Ter)
NM_001367561.1(DOCK7):c.5381_5382dup (p.Asn1795fs) rs1305460528
NM_001367561.1(DOCK7):c.5509-7_5509-6insA
NM_001367561.1(DOCK7):c.556dup (p.Thr186fs) rs2149679279
NM_001367561.1(DOCK7):c.5619dup (p.Ser1874fs)
NM_001367561.1(DOCK7):c.5830_5834dup (p.Pro1946fs) rs2149259725
NM_001367561.1(DOCK7):c.6101dup (p.Asn2034fs)
NM_001367561.1(DOCK7):c.6184C>T (p.Arg2062Ter)
NM_001367561.1(DOCK7):c.783del (p.Phe261fs) rs1557855477
NM_001367561.1(DOCK7):c.983C>G (p.Ser328Ter) rs886037666

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.