ClinVar Miner

List of variants reported as not provided for cranial nerve neuropathy

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu) rs201990981 0.00006
NM_130837.3(OPA1):c.1877G>A (p.Arg626His) rs140606054 0.00006
NM_130837.3(OPA1):c.740G>A (p.Arg247His) rs138350727 0.00002
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr) rs1445523438 0.00001
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr) rs552090021 0.00001
NC_012920.1(MT-CYB):m.15485C>T
NC_012920.1(MT-ND5):m.13763C>T rs1603224344
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.8686T>C rs1569484231
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys) rs864321717
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) rs267607165
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn) rs267607164
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His) rs267607164
NM_006086.4(TUBB3):c.166+4A>C
NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln) rs864321714
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg) rs864321715
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser) rs1131691895
NM_006086.4(TUBB3):c.508G>A (p.Val170Met) rs1344725531
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys) rs267607162
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr) rs267607163
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) rs2143165387
NM_025136.4(OPA3):c.277G>A (p.Gly93Ser) rs80356524
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu) rs1553876590
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1230+1G>T rs80356528
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs) rs863225275
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp) rs863225276
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg) rs863225277
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2991del (p.Arg998fs) rs80356531
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter) rs863225274
m.10237T>C rs1556423787
m.10663T>C rs1556423844
m.11253T>C rs200145866
m.11696G>A rs200873900
m.12811T>C rs199974018
m.12848C>T rs267606899
m.13637A>G rs200855215
m.13730G>A rs387906425
m.14279G>A rs869025187
m.14325T>C rs397515505
m.14459G>A rs199476105
m.14482C>A rs199476108
m.14482C>G rs199476108
m.14495A>G rs199476106
m.14498T>C rs869025186
m.14568C>T rs397515506
m.14596A>T rs387906424
m.14831G>A rs199795644
m.3376G>A rs397515612
m.3635G>A rs397515507
m.3697G>A rs199476122
m.3700G>A rs397515508
m.3733G>A rs199476125
m.4025C>T rs397515509
m.4160T>C rs199476119
m.4171C>A rs28616230
m.4640C>A rs387906426
m.5244G>A rs199476115
m.9101T>C rs199476134
m.9804G>A rs200613617

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.