ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 26 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.1595T>C (p.Met532Thr) rs781098579 0.00002
NM_004975.4(KCNB1):c.2537G>T (p.Gly846Val) rs1386449842 0.00002
NM_004975.4(KCNB1):c.1355A>G (p.Asp452Gly) rs760931963 0.00001
NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu) rs1984227856 0.00001
NM_004975.4(KCNB1):c.1693A>G (p.Ile565Val) rs761452916 0.00001
NM_004975.4(KCNB1):c.1727C>A (p.Thr576Lys) rs1355278265 0.00001
NM_004975.4(KCNB1):c.1778G>C (p.Ser593Thr) rs1415361663 0.00001
NM_004975.4(KCNB1):c.1937C>A (p.Ala646Asp) rs1247080453 0.00001
NM_004975.4(KCNB1):c.1960A>T (p.Ile654Phe) rs1276898684 0.00001
NM_004975.4(KCNB1):c.2200C>T (p.Pro734Ser) rs1214997887 0.00001
NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala) rs267605983 0.00001
NM_004975.4(KCNB1):c.2410A>G (p.Thr804Ala) rs1262864745 0.00001
NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile) rs1049874069 0.00001
NM_004975.4(KCNB1):c.29C>T (p.Ser10Phe) rs902335211 0.00001
NM_004975.4(KCNB1):c.703G>A (p.Val235Met) rs1315753296 0.00001
NM_004975.4(KCNB1):c.856G>A (p.Val286Met) rs1194019938 0.00001
NC_000020.10:g.(?_47989520)_(47991549_?)dup
NC_000020.10:g.(?_48098431)_(48099017_?)dup
NC_000020.11:g.(?_48921870)_(49482500_?)del
NC_000020.11:g.(?_49372963)_(49375012_?)del
NM_004975.4(KCNB1):c.1006C>T (p.Leu336Phe) rs2146813900
NM_004975.4(KCNB1):c.1015G>C (p.Ala339Pro) rs1984255406
NM_004975.4(KCNB1):c.1052T>C (p.Phe351Ser) rs2146813862
NM_004975.4(KCNB1):c.1065_1066delinsAT (p.Asp355_Glu356delinsGluTer) rs2146813849
NM_004975.4(KCNB1):c.1066G>A (p.Glu356Lys)
NM_004975.4(KCNB1):c.1079del (p.Lys360fs)
NM_004975.4(KCNB1):c.1080G>C (p.Lys360Asn) rs2146813828
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg) rs1569017174
NM_004975.4(KCNB1):c.1110G>T (p.Trp370Cys)
NM_004975.4(KCNB1):c.1112CCA[1] (p.Thr372del)
NM_004975.4(KCNB1):c.1126ACT[1] (p.Thr377del)
NM_004975.4(KCNB1):c.1130C>T (p.Thr377Ile) rs1569017148
NM_004975.4(KCNB1):c.1139A>C (p.Tyr380Ser)
NM_004975.4(KCNB1):c.1174A>G (p.Ile392Val)
NM_004975.4(KCNB1):c.117del (p.Leu40fs) rs1601162716
NM_004975.4(KCNB1):c.1190G>C (p.Cys397Ser)
NM_004975.4(KCNB1):c.1193G>A (p.Cys398Tyr)
NM_004975.4(KCNB1):c.1210G>A (p.Val404Met) rs1984244898
NM_004975.4(KCNB1):c.1210G>T (p.Val404Leu)
NM_004975.4(KCNB1):c.1223C>G (p.Pro408Arg) rs2146813607
NM_004975.4(KCNB1):c.122C>T (p.Ala41Val) rs1980525336
NM_004975.4(KCNB1):c.1231A>G (p.Ile411Val)
NM_004975.4(KCNB1):c.1244del (p.Asn415fs)
NM_004975.4(KCNB1):c.126C>G (p.His42Gln) rs1568658526
NM_004975.4(KCNB1):c.1289T>C (p.Ile430Thr)
NM_004975.4(KCNB1):c.1295G>A (p.Arg432Gln)
NM_004975.4(KCNB1):c.1345A>G (p.Asn449Asp) rs1984239652
NM_004975.4(KCNB1):c.1350G>A (p.Met450Ile)
NM_004975.4(KCNB1):c.1358C>T (p.Ala453Val) rs2146813430
NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly) rs368043123
NM_004975.4(KCNB1):c.1385A>C (p.Asp462Ala)
NM_004975.4(KCNB1):c.1394T>G (p.Val465Gly) rs2015314520
NM_004975.4(KCNB1):c.1397A>C (p.Glu466Ala) rs2146813382
NM_004975.4(KCNB1):c.1403A>G (p.Asn468Ser)
NM_004975.4(KCNB1):c.1408G>A (p.Glu470Lys)
NM_004975.4(KCNB1):c.1435C>T (p.Gln479Ter)
NM_004975.4(KCNB1):c.1446C>A (p.His482Gln) rs750701951
NM_004975.4(KCNB1):c.1458C>G (p.Asn486Lys) rs1388412501
NM_004975.4(KCNB1):c.1496G>C (p.Ser499Thr) rs1984232770
NM_004975.4(KCNB1):c.1529G>T (p.Gly510Val) rs767889610
NM_004975.4(KCNB1):c.152G>T (p.Arg51Leu) rs2122803715
NM_004975.4(KCNB1):c.1549T>C (p.Ser517Pro) rs2146813186
NM_004975.4(KCNB1):c.1564C>T (p.Gln522Ter)
NM_004975.4(KCNB1):c.157C>A (p.Pro53Thr)
NM_004975.4(KCNB1):c.1594A>G (p.Met532Val) rs1984228484
NM_004975.4(KCNB1):c.161G>A (p.Arg54His)
NM_004975.4(KCNB1):c.1628C>A (p.Pro543His) rs1251785989
NM_004975.4(KCNB1):c.1628C>T (p.Pro543Leu)
NM_004975.4(KCNB1):c.1651G>A (p.Ala551Thr)
NM_004975.4(KCNB1):c.1676A>G (p.Glu559Gly)
NM_004975.4(KCNB1):c.16A>G (p.Thr6Ala)
NM_004975.4(KCNB1):c.1700G>A (p.Ser567Asn)
NM_004975.4(KCNB1):c.1724G>T (p.Arg575Leu) rs544069848
NM_004975.4(KCNB1):c.1727C>G (p.Thr576Arg) rs1355278265
NM_004975.4(KCNB1):c.1748G>C (p.Arg583Pro)
NM_004975.4(KCNB1):c.1787_1788del (p.Thr596fs) rs1984217696
NM_004975.4(KCNB1):c.1817A>G (p.His606Arg) rs2146812820
NM_004975.4(KCNB1):c.1843_1862del (p.Lys615fs) rs2146812741
NM_004975.4(KCNB1):c.1874G>A (p.Gly625Asp) rs2146812721
NM_004975.4(KCNB1):c.1899T>G (p.Ser633Arg)
NM_004975.4(KCNB1):c.1907G>C (p.Arg636Thr) rs2146812675
NM_004975.4(KCNB1):c.1935T>G (p.Asp645Glu) rs763718208
NM_004975.4(KCNB1):c.1940G>A (p.Ser647Asn) rs760648723
NM_004975.4(KCNB1):c.1941C>G (p.Ser647Arg)
NM_004975.4(KCNB1):c.1946A>G (p.His649Arg)
NM_004975.4(KCNB1):c.1982T>A (p.Met661Lys)
NM_004975.4(KCNB1):c.2011G>T (p.Ala671Ser)
NM_004975.4(KCNB1):c.2028C>G (p.Phe676Leu) rs755628300
NM_004975.4(KCNB1):c.2034G>T (p.Glu678Asp)
NM_004975.4(KCNB1):c.2075A>G (p.His692Arg)
NM_004975.4(KCNB1):c.2079C>G (p.Asp693Glu)
NM_004975.4(KCNB1):c.2128T>A (p.Cys710Ser)
NM_004975.4(KCNB1):c.2134dup (p.Thr712fs)
NM_004975.4(KCNB1):c.2143G>C (p.Asp715His) rs1601069538
NM_004975.4(KCNB1):c.2173A>C (p.Ile725Leu)
NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val)
NM_004975.4(KCNB1):c.2200C>A (p.Pro734Thr) rs1214997887
NM_004975.4(KCNB1):c.2204C>T (p.Pro735Leu) rs1984193843
NM_004975.4(KCNB1):c.2206C>G (p.Arg736Gly)
NM_004975.4(KCNB1):c.2206del (p.Arg736fs) rs759902465
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
NM_004975.4(KCNB1):c.2207G>C (p.Arg736Pro) rs151175979
NM_004975.4(KCNB1):c.2234C>T (p.Ala745Val) rs1984191107
NM_004975.4(KCNB1):c.2238_2243del (p.Asn747_Phe748del)
NM_004975.4(KCNB1):c.2252G>A (p.Gly751Asp)
NM_004975.4(KCNB1):c.2266_2271del (p.Ile756_Asp757del)
NM_004975.4(KCNB1):c.2269G>A (p.Asp757Asn)
NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)
NM_004975.4(KCNB1):c.2306G>T (p.Ser769Ile) rs1209493320
NM_004975.4(KCNB1):c.2315C>A (p.Ser772Tyr) rs1445771227
NM_004975.4(KCNB1):c.2329A>G (p.Ser777Gly) rs1984182896
NM_004975.4(KCNB1):c.2345C>G (p.Thr782Ser) rs751639377
NM_004975.4(KCNB1):c.235G>A (p.Asp79Asn)
NM_004975.4(KCNB1):c.2366G>A (p.Gly789Glu)
NM_004975.4(KCNB1):c.2369C>T (p.Thr790Ile)
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn) rs1256695300
NM_004975.4(KCNB1):c.2416C>T (p.Pro806Ser) rs1471856482
NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr)
NM_004975.4(KCNB1):c.2460G>T (p.Leu820Phe) rs1984174923
NM_004975.4(KCNB1):c.2461A>T (p.Thr821Ser)
NM_004975.4(KCNB1):c.2472_2473delinsTT (p.Pro825Ser) rs2146811676
NM_004975.4(KCNB1):c.2473C>G (p.Pro825Ala)
NM_004975.4(KCNB1):c.2474C>T (p.Pro825Leu) rs1744051695
NM_004975.4(KCNB1):c.2491T>C (p.Cys831Arg)
NM_004975.4(KCNB1):c.2515C>A (p.Pro839Thr) rs1984172647
NM_004975.4(KCNB1):c.2536G>C (p.Gly846Arg)
NM_004975.4(KCNB1):c.2540G>A (p.Gly847Glu)
NM_004975.4(KCNB1):c.2540G>T (p.Gly847Val)
NM_004975.4(KCNB1):c.2546C>A (p.Ala849Asp)
NM_004975.4(KCNB1):c.307C>T (p.Arg103Ter) rs1601162563
NM_004975.4(KCNB1):c.31C>T (p.Arg11Cys)
NM_004975.4(KCNB1):c.32G>T (p.Arg11Leu)
NM_004975.4(KCNB1):c.368del (p.Gly123fs)
NM_004975.4(KCNB1):c.407G>A (p.Arg136His) rs1980515306
NM_004975.4(KCNB1):c.432G>A (p.Met144Ile) rs1179147119
NM_004975.4(KCNB1):c.435C>G (p.Asn145Lys)
NM_004975.4(KCNB1):c.441G>T (p.Glu147Asp)
NM_004975.4(KCNB1):c.446A>G (p.Lys149Arg)
NM_004975.4(KCNB1):c.457G>C (p.Glu153Gln)
NM_004975.4(KCNB1):c.466C>G (p.Arg156Gly)
NM_004975.4(KCNB1):c.471G>T (p.Glu157Asp) rs144926751
NM_004975.4(KCNB1):c.490G>C (p.Asp164His)
NM_004975.4(KCNB1):c.495C>A (p.Asn165Lys) rs1239466410
NM_004975.4(KCNB1):c.525_526del (p.Trp176fs)
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro) rs2122803080
NM_004975.4(KCNB1):c.553T>C (p.Ser185Pro)
NM_004975.4(KCNB1):c.567G>A (p.Lys189=) rs1980508600
NM_004975.4(KCNB1):c.571C>A (p.Leu191Ile)
NM_004975.4(KCNB1):c.575C>T (p.Ala192Val)
NM_004975.4(KCNB1):c.578T>A (p.Ile193Lys) rs1555889171
NM_004975.4(KCNB1):c.587T>A (p.Ile196Asn)
NM_004975.4(KCNB1):c.611T>C (p.Ile204Thr)
NM_004975.4(KCNB1):c.61A>T (p.Met21Leu)
NM_004975.4(KCNB1):c.62T>A (p.Met21Lys)
NM_004975.4(KCNB1):c.62T>C (p.Met21Thr)
NM_004975.4(KCNB1):c.635C>T (p.Pro212Leu) rs2146814318
NM_004975.4(KCNB1):c.637G>T (p.Glu213Ter)
NM_004975.4(KCNB1):c.654T>G (p.Asp218Glu) rs2146814301
NM_004975.4(KCNB1):c.676_685del (p.Asn226fs) rs2146814263
NM_004975.4(KCNB1):c.694G>A (p.Val232Met)
NM_004975.4(KCNB1):c.709A>T (p.Ile237Phe) rs2146814233
NM_004975.4(KCNB1):c.70G>T (p.Val24Leu)
NM_004975.4(KCNB1):c.712G>T (p.Ala238Ser)
NM_004975.4(KCNB1):c.718T>A (p.Phe240Ile) rs2146814213
NM_004975.4(KCNB1):c.725T>C (p.Met242Thr)
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) rs1601071839
NM_004975.4(KCNB1):c.73C>A (p.Arg25Ser)
NM_004975.4(KCNB1):c.740G>A (p.Arg247Lys) rs1984270863
NM_004975.4(KCNB1):c.752C>T (p.Ser251Leu) rs1984270019
NM_004975.4(KCNB1):c.754C>T (p.Pro252Ser) rs1984269566
NM_004975.4(KCNB1):c.788A>G (p.Asn263Ser) rs2146814130
NM_004975.4(KCNB1):c.799TTG[1] (p.Leu268del)
NM_004975.4(KCNB1):c.7G>A (p.Ala3Thr)
NM_004975.4(KCNB1):c.812T>C (p.Leu271Pro) rs1569017375
NM_004975.4(KCNB1):c.817T>C (p.Tyr273His)
NM_004975.4(KCNB1):c.83C>T (p.Ala28Val) rs769852170
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004975.4(KCNB1):c.863_873delinsG (p.Gln288fs) rs1601071660
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.878G>A (p.Arg293His)
NM_004975.4(KCNB1):c.890A>G (p.Gln297Arg) rs749981323
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter) rs1391326211
NM_004975.4(KCNB1):c.91C>T (p.Arg31Trp)
NM_004975.4(KCNB1):c.931G>A (p.Ala311Thr) rs2146813980
NM_004975.4(KCNB1):c.947G>T (p.Gly316Val)
NM_004975.4(KCNB1):c.95G>C (p.Arg32Pro)
NM_004975.4(KCNB1):c.975GAG[3] (p.Arg326_Ser327insArg)

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