ClinVar Miner

List of variants studied for central nervous system infectious disorder by OMIM

Included ClinVar conditions (16):
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Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_001571.6(IRF3):c.829G>A (p.Ala277Thr) rs143769046 0.00460
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00269
NM_003265.3(TLR3):c.889C>G (p.Leu297Val) rs35311343 0.00165
NM_003265.3(TLR3):c.2224C>T (p.Leu742Phe) rs147431766 0.00153
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_182919.4(TICAM1):c.557C>T (p.Ser186Leu) rs146550489 0.00063
NM_003265.3(TLR3):c.2600G>A (p.Arg867Gln) rs199768900 0.00061
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser) rs121434431 0.00053
NM_000311.5(PRNP):c.623G>A (p.Arg208His) rs74315412 0.00004
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_003265.3(TLR3):c.1079T>C (p.Leu360Pro) rs768091235 0.00003
NM_003265.3(TLR3):c.597A>T (p.Leu199Phe) rs753482575 0.00003
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407 0.00002
NM_000311.5(PRNP):c.695T>G (p.Met232Arg) rs74315409 0.00002
NM_001571.6(IRF3):c.854G>A (p.Arg285Gln) rs750526659 0.00002
NM_182919.4(TICAM1):c.421C>T (p.Arg141Ter) rs387907307 0.00001
NM_000098.2(CPT2):c.[1055T>G;1102G>A]
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.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.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_003265.2(TLR3):c.[2228G>A;2432G>T]
NM_003265.3(TLR3):c.2039C>T (p.Pro680Leu) rs2150068111
NM_003265.3(TLR3):c.2236G>T (p.Glu746Ter) rs1554064929
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs) rs759883057
NM_030930.4(UNC93B1):c.781G>A (p.Gly261Ser) rs780094017
NM_182919.4(TICAM1):c.749C>T (p.Pro250Leu) rs1555730283

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