ClinVar Miner

List of variants in gene NOD2 reported by Human Evolutionary Genetics, Institut Pasteur

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2381+218A>G rs199475918 0.00063
NM_001370466.1(NOD2):c.2381+199A>G rs199475917 0.00058
NM_001370466.1(NOD2):c.2717+148A>G rs199475922 0.00058
NM_001370466.1(NOD2):c.-8-2406T>C rs199475908 0.00055
NM_001370466.1(NOD2):c.-8-2335G>C rs199475910 0.00051
NM_001370466.1(NOD2):c.1923G>A (p.Pro641=) rs199475914 0.00019
NM_001370466.1(NOD2):c.2550-316A>G rs199475921 0.00019
NM_001370466.1(NOD2):c.-8-2388C>T rs199475909 0.00004
NM_001370466.1(NOD2):c.1178G>A (p.Arg393His) rs199475913 0.00004
NM_001370466.1(NOD2):c.-8-2021T>C rs199475911 0.00002
NM_001370466.1(NOD2):c.2337C>G (p.Gly779=) rs199475916 0.00002
NM_001370466.1(NOD2):c.2181G>A (p.Leu727=) rs199475915 0.00001
NM_001370466.1(NOD2):c.2465+28G>A rs199475919 0.00001
NM_001370466.1(NOD2):c.-8-2619C>A rs199475907
NM_001370466.1(NOD2):c.-9+2758A>G rs199475906
NM_001370466.1(NOD2):c.2466-41G>A rs199475920
NM_001370466.1(NOD2):c.950C>T (p.Ser317Phe) rs199475912

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