ClinVar Miner

List of variants in gene NLRP8 reported by Human Evolutionary Genetics, Institut Pasteur

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_176811.2(NLRP8):c.2706-53T>C rs199475845 0.00045
NM_176811.2(NLRP8):c.2332C>A (p.Leu778Ile) rs199475842 0.00038
NM_176811.2(NLRP8):c.368-197C>A rs199475834 0.00030
NM_176811.2(NLRP8):c.-206G>A rs199475832 0.00003
NM_176811.2(NLRP8):c.2214-57A>C rs199475841 0.00002
NM_176811.2(NLRP8):c.1013C>T (p.Ser338Phe) rs199475837
NM_176811.2(NLRP8):c.2043-3T>C rs199475838
NM_176811.2(NLRP8):c.2159dup (p.Leu720fs) rs199475839
NM_176811.2(NLRP8):c.2170G>A (p.Ala724Thr) rs199475840
NM_176811.2(NLRP8):c.2534+4A>T rs199475843
NM_176811.2(NLRP8):c.2705+138A>G rs199475844
NM_176811.2(NLRP8):c.284G>C (p.Arg95Pro) rs199475833
NM_176811.2(NLRP8):c.368-47C>T rs199475835
NM_176811.2(NLRP8):c.850C>A (p.Leu284Ile) rs199475836

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