ClinVar Miner

List of variants reported as affects for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln) rs146357218 0.00004
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_013964.5(NRG1):c.332T>C (p.Met111Thr) rs777137810 0.00003
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_000215.4(JAK3):c.970G>A (p.Asp324Asn) rs1446786243 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000179.3(MSH6):c.2722G>T (p.Glu908Ter) rs886056144
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.116T>G (p.Leu39Arg) rs121907979
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) rs387906949
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu) rs28941770
NM_000520.6(HEXA):c.540C>G (p.Tyr180Ter) rs121907969
NM_000520.6(HEXA):c.546dup (p.Leu183fs) rs1595801740
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.632T>C (p.Phe211Ser) rs121907974
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_004535.3(MYT1):c.2126C>T (p.Ala709Val) rs1983951301
NM_005628.3(SLC1A5):c.829G>A (p.Ala277Thr) rs765008475
NM_014265.6(ADAM28):c.1709C>G (p.Ser570Trp) rs201643797
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) rs773588375
NM_015291.4(DNAJC16):c.718C>T (p.Gln240Ter) rs746908478
NM_018245.3(OGDHL):c.2174A>T (p.Asn725Ile) rs2293239
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_153033.5(KCTD7):c.529C>T (p.Arg177Cys) rs1273966098
NM_178014.4(TUBB):c.[58-574C>A;58-593_58-575del]

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.