ClinVar Miner

List of variants reported as pathogenic for central nervous system infectious disorder

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00005
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000311.5(PRNP):c.623G>A (p.Arg208His) rs74315412 0.00004
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) rs368311455 0.00003
NM_000098.3(CPT2):c.1813G>C (p.Val605Leu) rs751557097 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln) rs764849762 0.00003
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter) rs539239516 0.00002
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407 0.00002
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) rs1557719455 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter) rs1374482155 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691 0.00001
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs)
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) rs1057517477
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.1784del (p.Pro595fs) rs760255368
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp) rs200080591
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.3(CPT2):c.63dup (p.Ser22fs)
NM_000098.3(CPT2):c.748_749del (p.Asn250fs) rs1187631754
NM_000311.3(PRNP):c.[385A>G;532G>A]
NM_000311.5(PRNP):c.154_177[6_13] rs193922906
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_000311.5(PRNP):c.313C>A (p.Pro105Thr) rs74315414
NM_000311.5(PRNP):c.313C>T (p.Pro105Ser) rs74315414
NM_000311.5(PRNP):c.314C>T (p.Pro105Leu) rs11538758
NM_000311.5(PRNP):c.350C>T (p.Ala117Val) rs74315402
NM_000311.5(PRNP):c.350_351inv (p.Ala117Val)
NM_000311.5(PRNP):c.392G>T (p.Gly131Val) rs74315410
NM_000311.5(PRNP):c.398C>T (p.Ala133Val) rs74315415
NM_000311.5(PRNP):c.435T>G (p.Tyr145Ter) rs80356710
NM_000311.5(PRNP):c.478C>T (p.Gln160Ter) rs80356711
NM_000311.5(PRNP):c.489C>G (p.Tyr163Ter) rs1555782101
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) rs74315403
NM_000311.5(PRNP):c.547A>G (p.Thr183Ala) rs74315411
NM_000311.5(PRNP):c.560A>G (p.His187Arg) rs74315413
NM_000311.5(PRNP):c.593T>C (p.Phe198Ser) rs74315405
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) rs28933385
NM_000311.5(PRNP):c.631G>C (p.Glu211Gln) rs398122370
NM_000311.5(PRNP):c.633G>C (p.Glu211Asp) rs398122413
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg) rs74315406
NM_000311.5(PRNP):c.678C>A (p.Tyr226Ter) rs398122414
NM_000311.5(PRNP):c.679C>T (p.Gln227Ter) rs17852079
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs) rs759883057
NM_030930.4(UNC93B1):c.286G>T (p.Glu96Ter) rs753436679
NM_030930.4(UNC93B1):c.341_351del (p.Gly114fs)
NM_030930.4(UNC93B1):c.668_671del (p.Ile223fs)
NM_030930.4(UNC93B1):c.702C>A (p.Cys234Ter) rs772974041

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.