ClinVar Miner

List of variants studied for cranial nerve neuropathy by GeneReviews

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.740G>A (p.Arg247His) rs138350727 0.00002
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.3460G>A rs199476118
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.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.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_025136.4(OPA3):c.277G>A (p.Gly93Ser) rs80356524
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
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
c.1228G>A
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.13708G>A rs28359178
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.15257G>A rs41518645
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.4216T>C rs1599988
m.4640C>A rs387906426
m.5244G>A rs199476115
m.9101T>C rs199476134
m.9804G>A rs200613617

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