ClinVar Miner

List of variants in gene KCNB1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln) rs764648709 0.00004
NM_004975.4(KCNB1):c.1649C>T (p.Ser550Leu) rs374024543 0.00001
NM_004975.4(KCNB1):c.1937C>A (p.Ala646Asp) rs1247080453 0.00001
NM_004975.4(KCNB1):c.2127G>A (p.Glu709=) rs750280554 0.00001
NM_004975.4(KCNB1):c.2320C>A (p.Pro774Thr) rs748597382 0.00001
NM_004975.4(KCNB1):c.1397A>C (p.Glu466Ala) rs2146813382
NM_004975.4(KCNB1):c.2024A>G (p.Asn675Ser) rs1186529246
NM_004975.4(KCNB1):c.2206C>T (p.Arg736Trp) rs754428005
NM_004975.4(KCNB1):c.2284G>A (p.Asp762Asn) rs1277329633
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg) rs530927636
NM_004975.4(KCNB1):c.2558C>T (p.Thr853Ile) rs1001982708
NM_004975.4(KCNB1):c.372C>T (p.Ile124=) rs147498424
NM_004975.4(KCNB1):c.446A>G (p.Lys149Arg)
NM_004975.4(KCNB1):c.567G>C (p.Lys189Asn) rs1980508600

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