ClinVar Miner

List of variants in gene KCNB1 reported as benign for developmental and epileptic encephalopathy, 26

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.198C>T (p.His66=) rs520282 0.02665
NM_004975.4(KCNB1):c.2473C>T (p.Pro825Ser) rs34467662 0.02504
NM_004975.4(KCNB1):c.1847C>G (p.Thr616Ser) rs2229006 0.01543
NM_004975.4(KCNB1):c.1837C>T (p.Pro613Ser) rs112735799 0.01273
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.2334C>T (p.Leu778=) rs142111310 0.00290
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.2363C>A (p.Thr788Lys) rs140932985 0.00045
NM_004975.4(KCNB1):c.177G>A (p.Lys59=) rs117017889 0.00036
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) rs140932636 0.00034
NM_004975.4(KCNB1):c.2298G>T (p.Leu766=) rs773587323 0.00018
NM_004975.4(KCNB1):c.568-18A>G rs190903326 0.00017
NM_004975.4(KCNB1):c.1356T>C (p.Asp452=) rs775898692 0.00015
NM_004975.4(KCNB1):c.2059G>A (p.Val687Ile) rs372263564 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.1654G>A (p.Ala552Thr) rs146429493 0.00009
NM_004975.4(KCNB1):c.1861G>T (p.Ala621Ser) rs201960228 0.00009
NM_004975.4(KCNB1):c.1655C>T (p.Ala552Val) rs370974891 0.00006
NM_004975.4(KCNB1):c.2375C>T (p.Ser792Leu) rs777053418 0.00006
NM_004975.4(KCNB1):c.2521G>A (p.Val841Ile) rs542708318 0.00006
NM_004975.4(KCNB1):c.546C>T (p.Pro182=) rs373223027 0.00006
NM_004975.4(KCNB1):c.1705G>A (p.Val569Ile) rs376490656 0.00005
NM_004975.4(KCNB1):c.2249C>T (p.Ala750Val) rs750157634 0.00005
NM_004975.4(KCNB1):c.2250G>A (p.Ala750=) rs368736609 0.00005
NM_004975.4(KCNB1):c.375C>T (p.Asp125=) rs201414449 0.00004
NM_004975.4(KCNB1):c.594C>T (p.Phe198=) rs375779334 0.00004
NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu) rs936778119 0.00003
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met) rs565025643 0.00003
NM_004975.4(KCNB1):c.1640C>T (p.Thr547Ile) rs896349825 0.00002
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His) rs544069848 0.00002
NM_004975.4(KCNB1):c.2135C>T (p.Thr712Met) rs775588653 0.00002
NM_004975.4(KCNB1):c.2152G>A (p.Val718Met) rs774976039 0.00002
NM_004975.4(KCNB1):c.2207G>A (p.Arg736Gln) rs151175979 0.00002
NM_004975.4(KCNB1):c.2248G>A (p.Ala750Thr) rs758332295 0.00002
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu) rs767889610 0.00001
NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu) rs770677266 0.00001
NM_004975.4(KCNB1):c.1649C>T (p.Ser550Leu) rs374024543 0.00001
NM_004975.4(KCNB1):c.2083C>A (p.Leu695Ile) rs775433680 0.00001
NM_004975.4(KCNB1):c.2099G>A (p.Ser700Asn) rs1984201256 0.00001
NM_004975.4(KCNB1):c.2180C>G (p.Thr727Ser) rs778296598 0.00001
NM_004975.4(KCNB1):c.2320C>A (p.Pro774Thr) rs748597382 0.00001
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala) rs142461221 0.00001
NM_004975.4(KCNB1):c.2471G>A (p.Gly824Asp) rs780469478 0.00001
NM_004975.4(KCNB1):c.2525G>A (p.Arg842His) rs185422169 0.00001
NM_004975.4(KCNB1):c.2531T>C (p.Leu844Ser) rs1314041160 0.00001
NM_004975.4(KCNB1):c.101G>A (p.Arg34His) rs2122803857
NM_004975.4(KCNB1):c.140G>T (p.Arg47Leu)
NM_004975.4(KCNB1):c.1410G>T (p.Glu470Asp)
NM_004975.4(KCNB1):c.1449G>T (p.Leu483Phe)
NM_004975.4(KCNB1):c.1475A>G (p.Lys492Arg)
NM_004975.4(KCNB1):c.1544C>T (p.Ala515Val) rs1159101104
NM_004975.4(KCNB1):c.1565A>T (p.Gln522Leu)
NM_004975.4(KCNB1):c.1702C>A (p.Pro568Thr)
NM_004975.4(KCNB1):c.1705G>C (p.Val569Leu)
NM_004975.4(KCNB1):c.1723C>G (p.Arg575Gly) rs947355756
NM_004975.4(KCNB1):c.182G>A (p.Arg61His)
NM_004975.4(KCNB1):c.1841G>A (p.Ser614Asn)
NM_004975.4(KCNB1):c.1847C>T (p.Thr616Ile) rs2229006
NM_004975.4(KCNB1):c.1850G>A (p.Gly617Glu)
NM_004975.4(KCNB1):c.1853G>A (p.Gly618Asp)
NM_004975.4(KCNB1):c.1853G>T (p.Gly618Val) rs771932289
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln) rs754927664
NM_004975.4(KCNB1):c.1880G>T (p.Arg627Leu) rs754927664
NM_004975.4(KCNB1):c.1935T>C (p.Asp645=)
NM_004975.4(KCNB1):c.1981A>G (p.Met661Val) rs1392516083
NM_004975.4(KCNB1):c.2051T>A (p.Leu684His)
NM_004975.4(KCNB1):c.2063T>C (p.Leu688Pro) rs1601069788
NM_004975.4(KCNB1):c.2105C>A (p.Ala702Glu) rs144379782
NM_004975.4(KCNB1):c.2107G>T (p.Ala703Ser)
NM_004975.4(KCNB1):c.21G>C (p.Lys7Asn)
NM_004975.4(KCNB1):c.2206C>T (p.Arg736Trp) rs754428005
NM_004975.4(KCNB1):c.2209T>A (p.Ser737Thr)
NM_004975.4(KCNB1):c.2213C>T (p.Pro738Leu)
NM_004975.4(KCNB1):c.2227G>A (p.Ala743Thr)
NM_004975.4(KCNB1):c.2252G>T (p.Gly751Val) rs1451585001
NM_004975.4(KCNB1):c.2253T>G (p.Gly751=)
NM_004975.4(KCNB1):c.2272G>A (p.Ala758Thr) rs774577428
NM_004975.4(KCNB1):c.2272G>T (p.Ala758Ser) rs774577428
NM_004975.4(KCNB1):c.2306G>A (p.Ser769Asn) rs1209493320
NM_004975.4(KCNB1):c.2363C>T (p.Thr788Met) rs140932985
NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln) rs1131691752
NM_004975.4(KCNB1):c.239A>G (p.Asp80Gly)
NM_004975.4(KCNB1):c.2417C>T (p.Pro806Leu) rs1249019020
NM_004975.4(KCNB1):c.2455G>A (p.Ala819Thr) rs373423740
NM_004975.4(KCNB1):c.2455G>T (p.Ala819Ser)
NM_004975.4(KCNB1):c.2468A>G (p.Lys823Arg) rs2146811699
NM_004975.4(KCNB1):c.2512T>C (p.Ser838Pro) rs1984172893
NM_004975.4(KCNB1):c.2515C>T (p.Pro839Ser) rs1984172647
NM_004975.4(KCNB1):c.2560C>T (p.Arg854Ter) rs780416138
NM_004975.4(KCNB1):c.2572A>G (p.Ile858Val)
NM_004975.4(KCNB1):c.28T>C (p.Ser10Pro)
NM_004975.4(KCNB1):c.41G>A (p.Ser14Asn)
NM_004975.4(KCNB1):c.5C>G (p.Pro2Arg) rs1279418021
NM_004975.4(KCNB1):c.661G>A (p.Gly221Ser) rs1984274983
NM_004975.4(KCNB1):c.78C>T (p.Ser26=) rs1194383095
NM_004975.4(KCNB1):c.82G>A (p.Ala28Thr)
NM_004975.4(KCNB1):c.83C>G (p.Ala28Gly)

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