ClinVar Miner

List of variants in gene LOC130055497, NFKBIA studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_020529.3(NFKBIA):c.-66G>A rs2273651 0.00614
NM_020529.3(NFKBIA):c.-41G>A rs540282095 0.00067
NM_020529.3(NFKBIA):c.11C>T (p.Ala4Val) rs1394403932 0.00001
NM_020529.3(NFKBIA):c.16G>A (p.Glu6Lys) rs923187160 0.00001
NM_020529.3(NFKBIA):c.63G>A (p.Lys21=) rs779802553 0.00001
NM_020529.3(NFKBIA):c.-42G>T rs1203824461
NM_020529.3(NFKBIA):c.-73C>A rs1372613093
NM_020529.3(NFKBIA):c.-80C>T rs886050476
NM_020529.3(NFKBIA):c.-87_-80dup rs540103354
NM_020529.3(NFKBIA):c.12G>A (p.Ala4=)
NM_020529.3(NFKBIA):c.18G>A (p.Glu6=)
NM_020529.3(NFKBIA):c.19C>T (p.Arg7Cys)
NM_020529.3(NFKBIA):c.27G>A (p.Gln9=)
NM_020529.3(NFKBIA):c.28G>T (p.Glu10Ter)
NM_020529.3(NFKBIA):c.2T>C (p.Met1Thr)
NM_020529.3(NFKBIA):c.30G>A (p.Glu10=) rs2138834404
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter) rs121913664
NM_020529.3(NFKBIA):c.40G>T (p.Glu14Ter) rs121913665
NM_020529.3(NFKBIA):c.44G>A (p.Gly15Asp)
NM_020529.3(NFKBIA):c.45C>T (p.Gly15=) rs2138834371
NM_020529.3(NFKBIA):c.46C>G (p.Pro16Ala)
NM_020529.3(NFKBIA):c.50G>A (p.Arg17His)
NM_020529.3(NFKBIA):c.51C>T (p.Arg17=)
NM_020529.3(NFKBIA):c.52G>A (p.Asp18Asn) rs746636446
NM_020529.3(NFKBIA):c.55G>A (p.Gly19Arg) rs2138834333
NM_020529.3(NFKBIA):c.61AAG[1] (p.Lys22del) rs760942646
NM_020529.3(NFKBIA):c.74T>C (p.Leu25Pro)

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