ClinVar Miner

List of variants in gene NFKB1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_003998.4(NFKB1):c.2593-4A>G rs150902390 0.00559
NM_003998.4(NFKB1):c.-8+9145A>G rs188317269 0.00506
NM_003998.4(NFKB1):c.1469C>T (p.Thr490Ile) rs4648065 0.00272
NM_003998.4(NFKB1):c.1845G>T (p.Leu615Phe) rs149211506 0.00208
NM_003998.4(NFKB1):c.1388T>C (p.Ile463Thr) rs144132174 0.00058
NM_003998.4(NFKB1):c.1601G>A (p.Arg534His) rs150281816 0.00046
NM_003998.4(NFKB1):c.2831C>A (p.Thr944Asn) rs143882681 0.00031
NM_003998.4(NFKB1):c.1332T>C (p.Pro444=) rs139489039 0.00025
NM_003998.4(NFKB1):c.1004G>A (p.Arg335Gln) rs143817570 0.00015
NM_003998.4(NFKB1):c.1155C>T (p.Gly385=) rs574302000 0.00014
NM_003998.4(NFKB1):c.1799A>C (p.Glu600Ala) rs55661548 0.00012
NM_003998.4(NFKB1):c.723T>C (p.Tyr241=) rs745756207 0.00011
NM_003998.4(NFKB1):c.2232A>G (p.Ala744=) rs138657975 0.00010
NM_003998.4(NFKB1):c.560G>A (p.Arg187Gln) rs201874528 0.00010
NM_003998.4(NFKB1):c.2548C>T (p.Arg850Trp) rs747643116 0.00008
NM_003998.4(NFKB1):c.1948G>A (p.Gly650Arg) rs375088091 0.00007
NM_003998.4(NFKB1):c.692G>A (p.Arg231His) rs146936581 0.00006
NM_003998.4(NFKB1):c.1211-7G>A rs749750576 0.00004
NM_003998.4(NFKB1):c.406G>A (p.Gly136Ser) rs199574943 0.00003
NM_003998.4(NFKB1):c.2549G>A (p.Arg850Gln) rs374536762 0.00002
NM_003998.4(NFKB1):c.2634A>T (p.Arg878Ser) rs751865962 0.00001
NM_003998.4(NFKB1):c.2679C>T (p.Ser893=) rs1578839272 0.00001
NM_003998.4(NFKB1):c.2759G>A (p.Arg920Gln) rs368962343 0.00001
NM_003998.4(NFKB1):c.322C>T (p.His108Tyr) rs749065614 0.00001
NM_003998.4(NFKB1):c.1099C>T (p.Leu367Phe)
NM_003998.4(NFKB1):c.1210+1G>A rs2149203552
NM_003998.4(NFKB1):c.1361dup (p.Asn454fs) rs1560706306
NM_003998.4(NFKB1):c.1400_1401dup (p.Gln468fs) rs1578809017
NM_003998.4(NFKB1):c.1429G>T (p.Val477Phe) rs56147914
NM_003998.4(NFKB1):c.1473AGA[1] (p.Glu493del)
NM_003998.4(NFKB1):c.1819del (p.Ala607fs) rs2149220731
NM_003998.4(NFKB1):c.2119C>T (p.Leu707=)
NM_003998.4(NFKB1):c.2455C>T (p.Gln819Ter) rs1578837249
NM_003998.4(NFKB1):c.2537A>G (p.Asn846Ser) rs1297155609
NM_003998.4(NFKB1):c.258+2T>C rs2149127976
NM_003998.4(NFKB1):c.261C>A (p.Ile87=) rs571739367
NM_003998.4(NFKB1):c.2828T>C (p.Leu943Pro)
NM_003998.4(NFKB1):c.307A>G (p.Asn103Asp) rs1578771216
NM_003998.4(NFKB1):c.407+1G>A rs1723945421
NM_003998.4(NFKB1):c.41T>C (p.Met14Thr) rs1741168290
NM_003998.4(NFKB1):c.56C>T (p.Pro19Leu)
NM_003998.4(NFKB1):c.584_585del (p.Glu195fs) rs2149184630
NM_003998.4(NFKB1):c.589del (p.Ile197fs) rs1578787945
NM_003998.4(NFKB1):c.734C>T (p.Ala245Val) rs1578790471
NM_003998.4(NFKB1):c.73A>G (p.Ile25Val)
NM_003998.4(NFKB1):c.856T>A (p.Tyr286Asn) rs1560694362
NM_003998.4(NFKB1):c.878G>A (p.Gly293Glu) rs2149190136

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