ClinVar Miner

List of variants in gene NLRP1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_033004.4(NLRP1):c.1845C>T (p.Ile615=) rs61753140 0.00632
NM_033004.4(NLRP1):c.1599G>T (p.Gln533His) rs112191372 0.00455
NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg) rs72827640 0.00324
NM_033004.4(NLRP1):c.3784-4G>A rs146498193 0.00178
NM_033004.4(NLRP1):c.1803C>T (p.Ile601=) rs61753141 0.00131
NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln) rs140628502 0.00122
NM_033004.4(NLRP1):c.1103G>C (p.Ser368Thr) rs145383615 0.00084
NM_033004.4(NLRP1):c.3518A>G (p.Gln1173Arg) rs150677537 0.00084
NM_033004.4(NLRP1):c.3973G>A (p.Val1325Ile) rs144711602 0.00072
NM_033004.4(NLRP1):c.4128G>A (p.Pro1376=) rs199842944 0.00056
NM_033004.4(NLRP1):c.2693G>A (p.Arg898Gln) rs149831544 0.00042
NM_033004.4(NLRP1):c.2145T>C (p.Ser715=) rs143215644 0.00014
NM_033004.4(NLRP1):c.3520+7A>C rs200652517 0.00012
NM_033004.4(NLRP1):c.375G>A (p.Pro125=) rs199569933 0.00007
NM_033004.4(NLRP1):c.3153A>G (p.Val1051=) rs202226497 0.00002
NM_033004.4(NLRP1):c.1140C>T (p.Leu380=) rs774196471 0.00001
NM_033004.4(NLRP1):c.2946C>T (p.Leu982=) rs200772292 0.00001
NM_033004.4(NLRP1):c.429A>C (p.Thr143=) rs758997805 0.00001
NM_033004.4(NLRP1):c.1581C>T (p.Cys527=)
NM_033004.4(NLRP1):c.2115G>A (p.Pro705=)
NM_033004.4(NLRP1):c.2841G>A (p.Arg947=) rs143175019
NM_033004.4(NLRP1):c.3756G>A (p.Leu1252=)
NM_033004.4(NLRP1):c.4057+8C>G rs190095941
NM_033004.4(NLRP1):c.438C>A (p.Arg146=) rs199475700

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