ClinVar Miner

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

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.2570G>A (p.Ser857Asn) rs34280195 0.00926
NM_004975.4(KCNB1):c.1182G>A (p.Gly394=) rs77238446 0.00481
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) rs115929614 0.00239
NM_004975.4(KCNB1):c.2106G>A (p.Ala702=) rs149678923 0.00238
NM_004975.4(KCNB1):c.1296G>A (p.Arg432=) rs142605642 0.00097
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=) rs145456546 0.00081
NM_004975.4(KCNB1):c.1551G>A (p.Ser517=) rs377030406 0.00014
NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln) rs761082551 0.00012
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu) rs201212125 0.00010
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=) rs201403239 0.00009
NM_004975.4(KCNB1):c.546C>T (p.Pro182=) rs373223027 0.00006
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=) rs750105922 0.00004
NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln) rs764648709 0.00004
NM_004975.4(KCNB1):c.375C>T (p.Asp125=) rs201414449 0.00004
NM_004975.4(KCNB1):c.568-5C>T rs185995580 0.00004
NM_004975.4(KCNB1):c.96G>A (p.Arg32=) rs781213174 0.00002
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.738G>A (p.Leu246=) rs1336511502 0.00001
NM_004975.4(KCNB1):c.1040G>T (p.Ser347Ile) rs2146813885
NM_004975.4(KCNB1):c.1076C>T (p.Thr359Ile) rs2146813832
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) rs1984251749
NM_004975.4(KCNB1):c.1133T>C (p.Val378Ala) rs1984250089
NM_004975.4(KCNB1):c.1188C>G (p.Leu396=) rs867258406
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.2342G>A (p.Ser781Asn) rs1271782193
NM_004975.4(KCNB1):c.2400C>T (p.Ser800=)
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.489C>T (p.Phe163=) rs767078520
NM_004975.4(KCNB1):c.567G>C (p.Lys189Asn) rs1980508600
NM_004975.4(KCNB1):c.605C>G (p.Ser202Cys) rs1060499607
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.940T>G (p.Ser314Ala) rs1984260160
NM_004975.4(KCNB1):c.995G>T (p.Gly332Val) rs1555889110

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