ClinVar Miner

List of variants in gene KCNB1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.567+49C>T rs35235111 0.03268
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.-51G>C rs536669582 0.00686
NC_000020.11:g.49482899G>A rs58482942 0.00522
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.1734G>C (p.Gly578=) rs145456546 0.00081
NM_004975.4(KCNB1):c.2136G>A (p.Thr712=) rs139458439 0.00057
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.2324C>A (p.Pro775His) rs530927636 0.00025
NM_004975.4(KCNB1):c.51G>A (p.Pro17=) rs772184358 0.00022
NM_004975.4(KCNB1):c.-13G>A rs1010817242 0.00019
NM_004975.4(KCNB1):c.2298G>T (p.Leu766=) rs773587323 0.00018
NM_004975.4(KCNB1):c.2520C>T (p.Asp840=) rs372147544 0.00017
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.1551G>A (p.Ser517=) rs377030406 0.00014
NM_004975.4(KCNB1):c.*17G>A rs368159173 0.00012
NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln) rs761082551 0.00012
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=) rs112132596 0.00012
NM_004975.4(KCNB1):c.630G>A (p.Thr210=) rs150723418 0.00011
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu) rs201212125 0.00010
NM_004975.4(KCNB1):c.2105C>T (p.Ala702Val) rs144379782 0.00010
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=) rs201403239 0.00009
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.2115C>T (p.Val705=) rs199910304 0.00009
NM_004975.4(KCNB1):c.2472C>T (p.Gly824=) rs375177375 0.00009
NM_004975.4(KCNB1):c.-47G>A rs569121895 0.00006
NM_004975.4(KCNB1):c.1655C>T (p.Ala552Val) rs370974891 0.00006
NM_004975.4(KCNB1):c.1905T>C (p.Gly635=) rs117166054 0.00006
NM_004975.4(KCNB1):c.2375C>T (p.Ser792Leu) rs777053418 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.2327A>G (p.Lys776Arg) rs756982426 0.00005
NM_004975.4(KCNB1):c.39C>T (p.Thr13=) rs775536644 0.00005
NM_004975.4(KCNB1):c.504C>T (p.Cys168=) rs139960830 0.00005
NM_004975.4(KCNB1):c.855C>T (p.Ser285=) rs367938880 0.00005
NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr) rs145421532 0.00004
NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln) rs1449919002 0.00004
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=) rs750105922 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.114G>T (p.Gly38=) rs1233894851 0.00003
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met) rs565025643 0.00003
NM_004975.4(KCNB1):c.598G>A (p.Val200Ile) rs748573940 0.00003
NM_004975.4(KCNB1):c.1788A>T (p.Thr596=) rs373119881 0.00002
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) rs753575587 0.00002
NM_004975.4(KCNB1):c.2058C>T (p.Pro686=) rs908785527 0.00002
NM_004975.4(KCNB1):c.2207G>A (p.Arg736Gln) rs151175979 0.00002
NM_004975.4(KCNB1):c.2271C>T (p.Asp757=) rs190726852 0.00002
NM_004975.4(KCNB1):c.2516C>T (p.Pro839Leu) rs761070687 0.00002
NM_004975.4(KCNB1):c.568-20C>T rs934317402 0.00002
NM_004975.4(KCNB1):c.568-9T>C rs771401083 0.00002
NM_004975.4(KCNB1):c.693C>T (p.His231=) rs765195036 0.00002
NM_004975.4(KCNB1):c.96G>A (p.Arg32=) rs781213174 0.00002
NM_004975.4(KCNB1):c.-29C>G rs1044884348 0.00001
NM_004975.4(KCNB1):c.1116C>G (p.Thr372=) rs1347667767 0.00001
NM_004975.4(KCNB1):c.1371C>G (p.Ser457Arg) rs770317185 0.00001
NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu) rs770677266 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.1723C>T (p.Arg575Cys) rs947355756 0.00001
NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val) rs770069345 0.00001
NM_004975.4(KCNB1):c.2055C>A (p.Leu685=) rs200849612 0.00001
NM_004975.4(KCNB1):c.2178C>T (p.Tyr726=) rs1027150424 0.00001
NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala) rs267605983 0.00001
NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile) rs1049874069 0.00001
NM_004975.4(KCNB1):c.411C>T (p.Tyr137=) rs747090668 0.00001
NM_004975.4(KCNB1):c.567+3G>A rs752873604 0.00001
NM_004975.4(KCNB1):c.703G>A (p.Val235Met) rs1315753296 0.00001
NM_004975.4(KCNB1):c.711C>T (p.Ile237=) rs1020438851 0.00001
NM_004975.4(KCNB1):c.81G>A (p.Lys27=) rs910155179 0.00001
NM_004975.4(KCNB1):c.900C>A (p.Arg300=) rs1057523982 0.00001
NM_004975.4(KCNB1):c.*71A>C rs147708122
NM_004975.4(KCNB1):c.1022G>T (p.Gly341Val)
NM_004975.4(KCNB1):c.1055C>T (p.Ala352Val)
NM_004975.4(KCNB1):c.1055_1066del (p.Ala352_Asp355del) rs2146813853
NM_004975.4(KCNB1):c.1057G>A (p.Glu353Lys) rs1057524688
NM_004975.4(KCNB1):c.1083C>A (p.Phe361Leu)
NM_004975.4(KCNB1):c.1095del (p.Ala366fs) rs1601071350
NM_004975.4(KCNB1):c.1108T>C (p.Trp370Arg) rs886041743
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) rs587777849
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu) rs1569017143
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu) rs1984249721
NM_004975.4(KCNB1):c.113G>C (p.Gly38Ala) rs1555801618
NM_004975.4(KCNB1):c.1144G>C (p.Asp382His) rs1555889090
NM_004975.4(KCNB1):c.1154C>T (p.Pro385Leu) rs2146813711
NM_004975.4(KCNB1):c.1178T>C (p.Val393Ala)
NM_004975.4(KCNB1):c.117dup (p.Leu40fs)
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1204G>T (p.Val402Phe)
NM_004975.4(KCNB1):c.1232T>A (p.Ile411Asn)
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu) rs1984242860
NM_004975.4(KCNB1):c.1265A>C (p.Glu422Ala) rs1064795048
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.1298G>A (p.Arg433Gln)
NM_004975.4(KCNB1):c.1314_1315del (p.Arg438fs) rs1555889069
NM_004975.4(KCNB1):c.1320_1339dup (p.Ser447Ter) rs1601070913
NM_004975.4(KCNB1):c.1326T>C (p.Asn442=) rs1601070955
NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly) rs368043123
NM_004975.4(KCNB1):c.1503T>C (p.Ser501=) rs1601070677
NM_004975.4(KCNB1):c.1573_1587dup (p.Asn525_Leu529dup) rs1009356716
NM_004975.4(KCNB1):c.1687G>T (p.Glu563Ter)
NM_004975.4(KCNB1):c.1724G>T (p.Arg575Leu) rs544069848
NM_004975.4(KCNB1):c.1800G>A (p.Glu600=) rs1290919811
NM_004975.4(KCNB1):c.1821C>T (p.Ser607=) rs1057522569
NM_004975.4(KCNB1):c.1843_1862del (p.Lys615fs) rs2146812741
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln) rs754927664
NM_004975.4(KCNB1):c.1898G>A (p.Ser633Asn) rs750807577
NM_004975.4(KCNB1):c.1935T>G (p.Asp645Glu) rs763718208
NM_004975.4(KCNB1):c.1942_1945del (p.Gln648fs) rs2146812625
NM_004975.4(KCNB1):c.2029A>G (p.Met677Val) rs1202934279
NM_004975.4(KCNB1):c.2069T>C (p.Met690Thr) rs776815894
NM_004975.4(KCNB1):c.2079C>A (p.Asp693Glu) rs1470429088
NM_004975.4(KCNB1):c.2091C>G (p.Asn697Lys) rs746382408
NM_004975.4(KCNB1):c.2143G>C (p.Asp715His) rs1601069538
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
NM_004975.4(KCNB1):c.2238_2243del (p.Asn747_Phe748del)
NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val) rs1304300872
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg) rs530927636
NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln) rs1131691752
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn) rs1256695300
NM_004975.4(KCNB1):c.241_243del (p.Asn81del)
NM_004975.4(KCNB1):c.243C>T (p.Asn81=) rs1295557969
NM_004975.4(KCNB1):c.2470G>C (p.Gly824Arg)
NM_004975.4(KCNB1):c.342C>A (p.Ser114Arg) rs1980517037
NM_004975.4(KCNB1):c.368G>T (p.Gly123Val)
NM_004975.4(KCNB1):c.430A>C (p.Met144Leu)
NM_004975.4(KCNB1):c.596T>G (p.Ile199Ser) rs2146814365
NM_004975.4(KCNB1):c.61A>T (p.Met21Leu)
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.643C>T (p.Gln215Ter) rs1601071971
NM_004975.4(KCNB1):c.661G>A (p.Gly221Ser) rs1984274983
NM_004975.4(KCNB1):c.661delinsAT (p.Gly221fs) rs1555889157
NM_004975.4(KCNB1):c.682del (p.Gln228fs)
NM_004975.4(KCNB1):c.70G>A (p.Val24Met) rs778774389
NM_004975.4(KCNB1):c.74_75delinsAA (p.Arg25Gln) rs2122803954
NM_004975.4(KCNB1):c.813G>A (p.Leu271=) rs763166574
NM_004975.4(KCNB1):c.820dup (p.Tyr274fs) rs886041617
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.899G>A (p.Arg300His)
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter) rs1391326211
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.937C>T (p.His313Tyr) rs918313461
NM_004975.4(KCNB1):c.938A>G (p.His313Arg) rs1057521887
NM_004975.4(KCNB1):c.939C>T (p.His313=) rs1304387636
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004975.4(KCNB1):c.990G>C (p.Glu330Asp) rs1131691489
NM_004975.4(KCNB1):c.995G>T (p.Gly332Val) rs1555889110

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