ClinVar Miner

List of variants reported as risk factor for acute disease

Included ClinVar conditions (75):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
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_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285 0.00014
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_001571.6(IRF3):c.854G>A (p.Arg285Gln) rs750526659 0.00002
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_182919.4(TICAM1):c.421C>T (p.Arg141Ter) rs387907307 0.00001
NM_000098.2(CPT2):c.[1055T>G;1102G>A]
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp) rs1057519906
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) rs121913503
NM_002168.4(IDH2):c.515G>T (p.Arg172Met) rs121913503
NM_002168.4(IDH2):c.516G>C (p.Arg172Ser) rs1057519736
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_006267.5(RANBP2):c.1958C>T (p.Thr653Ile) rs121434503
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
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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