ClinVar Miner

List of variants in gene NLRP13 reported by Human Evolutionary Genetics, Institut Pasteur

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_176810.2(NLRP13):c.458-188G>A rs199476251 0.00265
NM_176810.2(NLRP13):c.2619-11T>A rs199476258 0.00103
NM_176810.2(NLRP13):c.457+143T>G rs199476250 0.00095
NM_176810.2(NLRP13):c.2958G>A (p.Gly986=) rs199475878 0.00035
NM_176810.2(NLRP13):c.319+45C>T rs199476249 0.00034
NM_176810.2(NLRP13):c.2112-208G>A rs199476254 0.00029
NM_176810.2(NLRP13):c.1530G>A (p.Val510=) rs199475875 0.00016
NM_176810.2(NLRP13):c.2619-7C>A rs199476259 0.00010
NM_176810.2(NLRP13):c.2037G>T (p.Lys679Asn) rs199475876 0.00007
NM_176810.2(NLRP13):c.2619-85C>T rs199476256 0.00004
NM_176810.2(NLRP13):c.2112-290T>G rs199476253 0.00003
NM_176810.2(NLRP13):c.2619-24A>G rs199476257 0.00003
NM_176810.2(NLRP13):c.2111+89G>T rs199476252 0.00001
NM_176810.2(NLRP13):c.2282+34C>A rs199476255
NM_176810.2(NLRP13):c.2650T>A (p.Cys884Ser) rs199475877
NM_176810.2(NLRP13):c.3104C>T (p.Ser1035Leu) rs199475879
NM_176810.2(NLRP13):c.470C>T (p.Ala157Val) rs199475874

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