ClinVar Miner

List of variants in gene NLRP1 reported as not provided by Human Evolutionary Genetics, Institut Pasteur

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_033004.4(NLRP1):c.4057+205G>C rs199476217 0.00204
NM_033004.4(NLRP1):c.4057+217T>C rs199476218 0.00160
NM_033004.4(NLRP1):c.448+292C>T rs199476209 0.00038
NM_001033053.3(NLRP1):c.*351T>A rs199475705 0.00016
NM_033004.4(NLRP1):c.3521-107G>A rs199476213 0.00009
NM_033004.4(NLRP1):c.2529-18G>T rs199476210 0.00007
NM_033004.4(NLRP1):c.271+181G>A rs199476206 0.00003
NM_033004.4(NLRP1):c.448+109C>G rs199476208 0.00003
NM_033004.4(NLRP1):c.2870+58A>G rs199476212 0.00001
NM_033004.4(NLRP1):c.3521-91A>G rs199476214 0.00001
NM_033004.4(NLRP1):c.4103-161A>G rs199476219 0.00001
NM_033004.4(NLRP1):c.1916A>T (p.Asp639Val) rs199475701
NM_033004.4(NLRP1):c.2699+368G>A rs199476211
NM_033004.4(NLRP1):c.271+186G>A rs199476207
NM_033004.4(NLRP1):c.2817G>A (p.Val939=) rs199475702
NM_033004.4(NLRP1):c.3186T>G (p.Pro1062=) rs199475703
NM_033004.4(NLRP1):c.3747C>A (p.His1249Gln) rs199475704
NM_033004.4(NLRP1):c.3784-240C>G rs199476215
NM_033004.4(NLRP1):c.3915+121G>C rs199476216
NM_033004.4(NLRP1):c.438C>A (p.Arg146=) rs199475700

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