ClinVar Miner

List of variants studied for bacterial infectious disease

Included ClinVar conditions (5):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_153758.5(IL19):c.-149+2211A>G rs1800871 0.69449
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr) rs3761863 0.61824
NM_003263.4(TLR1):c.1805G>T (p.Ser602Ile) rs5743618 0.50543
NM_001370466.1(NOD2):c.*397A>C rs3135499 0.45667
NM_003263.4(TLR1):c.743A>G (p.Asn248Ser) rs4833095 0.43490
NM_002438.4(MRC1):c.1186G>A (p.Gly396Ser) rs606231248 0.31451
NM_153218.4(LACC1):c.760A>G (p.Ile254Val) rs3764147 0.26736
NM_001318789.2(TLR2):c.1626C>G (p.Leu542=) rs5743701 0.01010
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val) rs116232047 0.00149
NM_001318789.2(TLR2):c.1340G>A (p.Arg447Gln) rs374122287 0.00011
NM_001318789.2(TLR2):c.2029C>T (p.Arg677Trp) rs121917864 0.00010
NC_000008.11:g.89811459A>G
NC_000009.12:g.114776054C>T
NC_000013.11:g.43904864A>G
NM_001370466.1(NOD2):c.459+168G>A
NM_001370466.1(NOD2):c.460-3786A>G
NM_003821.6(RIPK2):c.483+789G>A
NM_005118.4(TNFSF15):c.*4960A>G
NM_005118.4(TNFSF15):c.211-2855G>C
NM_006068.5(TLR6):c.745T>G (p.Ser249Ala)
NM_018622.7(PARL):c.511+4771C>T
NM_144974.5(CCDC122):c.555+178G>T
NM_153758.5(IL19):c.-149+2474T>C
NM_198578.4(LRRK2):c.4739-122T>A
NR_046507.1(PINK1-AS):n.629C>T

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