ClinVar Miner

List of variants in gene NLRP1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_033004.4(NLRP1):c.2142C>G (p.His714Gln) rs147100948 0.00016
NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys) rs147371989 0.00015
NM_033004.4(NLRP1):c.2341C>A (p.Pro781Thr) rs201368394 0.00014
NM_033004.4(NLRP1):c.1307C>T (p.Ala436Val) rs150958602 0.00009
NM_033004.4(NLRP1):c.1531A>G (p.Lys511Glu) rs202109570 0.00009
NM_033004.4(NLRP1):c.2528G>A (p.Arg843Gln) rs201380144 0.00005
NM_033004.4(NLRP1):c.1228G>A (p.Asp410Asn) rs199904472 0.00001
NM_033004.4(NLRP1):c.2036G>A (p.Ser679Asn) rs199567688 0.00001
NM_033004.4(NLRP1):c.3820C>T (p.Arg1274Ter) rs866926418 0.00001
NM_033004.4(NLRP1):c.790T>C (p.Cys264Arg) rs1914533218 0.00001
GRCh37/hg19 17p13.2(chr17:5456876-5487832)x3
NM_033004.4(NLRP1):c.1084C>G (p.Gln362Glu)
NM_033004.4(NLRP1):c.1409T>C (p.Leu470Ser)
NM_033004.4(NLRP1):c.1867C>G (p.His623Asp)
NM_033004.4(NLRP1):c.1901C>A (p.Ser634Tyr)
NM_033004.4(NLRP1):c.2093G>A (p.Arg698Lys)
NM_033004.4(NLRP1):c.2114C>T (p.Pro705Leu)
NM_033004.4(NLRP1):c.2182_2186delinsTTGTACGAGACTT (p.Lys728fs)
NM_033004.4(NLRP1):c.380G>A (p.Gly127Glu)
NM_033004.4(NLRP1):c.4006G>C (p.Val1336Leu) rs1597393606
NM_033004.4(NLRP1):c.4014C>G (p.Asp1338Glu) rs1908351072
NM_033004.4(NLRP1):c.790del (p.Cys264fs) rs1597460588

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