ClinVar Miner

List of variants in gene NFKB1 reported as likely pathogenic for not provided

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NC_000004.11:g.(?_103487819)_(103498171_?)del
NM_003998.4(NFKB1):c.119-1G>C
NM_003998.4(NFKB1):c.1210+1G>A rs2149203552
NM_003998.4(NFKB1):c.1300+1G>T rs2149205109
NM_003998.4(NFKB1):c.1361dup (p.Asn454fs) rs1560706306
NM_003998.4(NFKB1):c.1400_1401dup (p.Gln468fs) rs1578809017
NM_003998.4(NFKB1):c.1402C>T (p.Gln468Ter) rs939459600
NM_003998.4(NFKB1):c.159+1G>A rs1741461840
NM_003998.4(NFKB1):c.1753-1G>C
NM_003998.4(NFKB1):c.1819del (p.Ala607fs) rs2149220731
NM_003998.4(NFKB1):c.2124+1G>A rs2149221946
NM_003998.4(NFKB1):c.2227+2T>C
NM_003998.4(NFKB1):c.2235_2352+624del
NM_003998.4(NFKB1):c.2419+1dup rs2149230139
NM_003998.4(NFKB1):c.2419+2T>G
NM_003998.4(NFKB1):c.2455C>T (p.Gln819Ter) rs1578837249
NM_003998.4(NFKB1):c.258+1G>C
NM_003998.4(NFKB1):c.258+2T>C rs2149127976
NM_003998.4(NFKB1):c.40-2A>G
NM_003998.4(NFKB1):c.407+1G>A rs1723945421
NM_003998.4(NFKB1):c.407+2T>G rs2149168346
NM_003998.4(NFKB1):c.500dup (p.Asn167fs) rs1578785260
NM_003998.4(NFKB1):c.571+1G>A rs2149182005
NM_003998.4(NFKB1):c.572-1G>C rs2149184604
NM_003998.4(NFKB1):c.584_585del (p.Glu195fs) rs2149184630
NM_003998.4(NFKB1):c.589del (p.Ile197fs) rs1578787945
NM_003998.4(NFKB1):c.730+1G>A
NM_003998.4(NFKB1):c.830dup (p.Lys278fs) rs1578790573
NM_003998.4(NFKB1):c.835+1G>A rs1553934395
NM_003998.4(NFKB1):c.835+2T>C rs869320689
NM_003998.4(NFKB1):c.836-2A>C
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_003998.4(NFKB1):c.928-1G>A rs2149192562
NM_003998.4(NFKB1):c.928-2A>G

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