ClinVar Miner

List of variants in gene combination LOC121815964, NFKB2 reported as uncertain significance for Immunodeficiency, common variable, 10

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001322934.2(NFKB2):c.736G>A (p.Val246Ile) rs368808361 0.00021
NM_001322934.2(NFKB2):c.722G>A (p.Arg241Gln) rs772667682 0.00002
NM_001322934.2(NFKB2):c.662-5C>T rs1469839251 0.00001
NM_001322934.2(NFKB2):c.662A>G (p.Lys221Arg) rs2061147566
NM_001322934.2(NFKB2):c.673dup (p.Ala225fs) rs2061147687
NM_001322934.2(NFKB2):c.710C>T (p.Ala237Val)
NM_001322934.2(NFKB2):c.719_720del (p.Val240fs)
NM_001322934.2(NFKB2):c.742C>G (p.Leu248Val) rs2061148628

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