ClinVar Miner

List of variants in gene KL reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_004795.4(KL):c.639C>A (p.Ala213=) rs387907445 0.00067
NM_004795.4(KL):c.2571C>A (p.Asn857Lys) rs140707985 0.00048
NM_004795.4(KL):c.2245G>T (p.Ala749Ser) rs372720628 0.00041
NM_004795.4(KL):c.1945C>T (p.Arg649Cys) rs199843173 0.00037
NM_004795.4(KL):c.387C>T (p.Tyr129=) rs373385333 0.00021
NM_004795.4(KL):c.967G>A (p.Val323Ile) rs143344388 0.00019
NM_004795.4(KL):c.1764G>T (p.Met588Ile) rs543489938 0.00014
NM_004795.4(KL):c.1105C>G (p.Leu369Val) rs142695155 0.00012
NM_004795.4(KL):c.1882C>T (p.Arg628Cys) rs200940225 0.00012
NM_004795.4(KL):c.1858C>T (p.Arg620Cys) rs34292549 0.00011
NM_004795.4(KL):c.450C>A (p.Ser150=) rs764992732 0.00011
NM_004795.4(KL):c.476A>G (p.Asn159Ser) rs200218010 0.00011
NM_004795.4(KL):c.2862G>A (p.Pro954=) rs387907447 0.00009
NM_004795.4(KL):c.956C>T (p.Ser319Phe) rs138955761 0.00009
NM_004795.4(KL):c.2069C>T (p.Pro690Leu) rs146275953 0.00007
NM_004795.4(KL):c.2557C>T (p.Arg853Cys) rs147992424 0.00006
NM_004795.4(KL):c.1987G>A (p.Ala663Thr) rs763374333 0.00004
NM_004795.4(KL):c.2057C>T (p.Thr686Met) rs141695559 0.00004
NM_004795.4(KL):c.2513G>C (p.Trp838Ser) rs199812311 0.00004
NM_004795.4(KL):c.398T>A (p.Phe133Tyr) rs749356037 0.00004
NM_004795.4(KL):c.560C>T (p.Pro187Leu) rs761695698 0.00004
NM_004795.4(KL):c.2995C>A (p.Leu999Ile) rs200295310 0.00003
NM_004795.4(KL):c.149C>T (p.Ala50Val) rs1186993804 0.00002
NM_004795.4(KL):c.1780C>T (p.Arg594Cys) rs138511256 0.00002
NM_004795.4(KL):c.2572T>A (p.Trp858Arg) rs757603569 0.00002
NM_004795.4(KL):c.2702-3C>T rs1383337518 0.00002
NM_004795.4(KL):c.497A>G (p.Asn166Ser) rs387907444 0.00002
NM_004795.4(KL):c.944A>G (p.Glu315Gly) rs759972130 0.00002
NM_004795.4(KL):c.1008_1015dup (p.Glu339fs) rs780409376 0.00001
NM_004795.4(KL):c.1393G>A (p.Glu465Lys) rs369262610 0.00001
NM_004795.4(KL):c.1557T>A (p.Phe519Leu) rs750440983 0.00001
NM_004795.4(KL):c.1594A>G (p.Ile532Val) rs371650258 0.00001
NM_004795.4(KL):c.1690G>A (p.Val564Met) rs766985910 0.00001
NM_004795.4(KL):c.254A>G (p.Lys85Arg) rs1190809246 0.00001
NM_004795.4(KL):c.257G>A (p.Gly86Asp) rs1477759912 0.00001
NM_004795.4(KL):c.2684T>C (p.Ile895Thr) rs387907441 0.00001
NM_004795.4(KL):c.2758C>T (p.Arg920Cys) rs745808758 0.00001
NM_004795.4(KL):c.2779C>T (p.Leu927Phe) rs777126851 0.00001
NM_004795.4(KL):c.2786G>A (p.Arg929His) rs373063965 0.00001
NM_004795.4(KL):c.2959G>A (p.Ala987Thr) rs755999183 0.00001
NM_004795.4(KL):c.304G>C (p.Gly102Arg) rs758180115 0.00001
NM_004795.4(KL):c.316A>C (p.Asn106His) rs1870354005 0.00001
NM_004795.4(KL):c.578A>G (p.His193Arg) rs121908423 0.00001
NC_000013.11:g.33016361_33016468del
NC_000013.11:g.33016362_33016466del
NM_004795.4(KL):c.1077C>A (p.Phe359Leu)
NM_004795.4(KL):c.1101dup (p.Ala368fs)
NM_004795.4(KL):c.1150A>G (p.Met384Val)
NM_004795.4(KL):c.1151T>C (p.Met384Thr)
NM_004795.4(KL):c.1177A>G (p.Asn393Asp)
NM_004795.4(KL):c.1178A>G (p.Asn393Ser)
NM_004795.4(KL):c.1204G>T (p.Asp402Tyr)
NM_004795.4(KL):c.1208T>G (p.Leu403Arg)
NM_004795.4(KL):c.120G>T (p.Gln40His)
NM_004795.4(KL):c.126G>A (p.Trp42Ter)
NM_004795.4(KL):c.12C>A (p.Ser4Arg)
NM_004795.4(KL):c.1321A>C (p.Thr441Pro)
NM_004795.4(KL):c.1331-4_1331-3delinsAA
NM_004795.4(KL):c.1373G>A (p.Trp458Ter) rs2138234285
NM_004795.4(KL):c.1391del (p.Phe464fs)
NM_004795.4(KL):c.140G>C (p.Arg47Pro)
NM_004795.4(KL):c.1420C>T (p.Arg474Cys)
NM_004795.4(KL):c.1462TTG[1] (p.Leu489del) rs777919048
NM_004795.4(KL):c.1468C>A (p.Pro490Thr)
NM_004795.4(KL):c.1610C>T (p.Thr537Ile)
NM_004795.4(KL):c.161C>T (p.Ala54Val)
NM_004795.4(KL):c.1660A>G (p.Ser554Gly)
NM_004795.4(KL):c.1667G>A (p.Arg556Lys)
NM_004795.4(KL):c.1706A>T (p.Lys569Ile)
NM_004795.4(KL):c.1716T>G (p.Cys572Trp)
NM_004795.4(KL):c.1725T>G (p.Phe575Leu) rs2138242351
NM_004795.4(KL):c.1726G>A (p.Ala576Thr)
NM_004795.4(KL):c.1730C>G (p.Ala577Gly)
NM_004795.4(KL):c.1738C>T (p.Pro580Ser)
NM_004795.4(KL):c.1744A>G (p.Ile582Val)
NM_004795.4(KL):c.1756C>T (p.Gln586Ter) rs770780681
NM_004795.4(KL):c.1766A>C (p.His589Pro)
NM_004795.4(KL):c.17C>A (p.Pro6Gln)
NM_004795.4(KL):c.1805_1835del (p.Ile602fs) rs771929032
NM_004795.4(KL):c.1807C>G (p.Leu603Val)
NM_004795.4(KL):c.1837C>A (p.His613Asn)
NM_004795.4(KL):c.1865T>C (p.Met622Thr)
NM_004795.4(KL):c.1873G>C (p.Glu625Gln)
NM_004795.4(KL):c.1883G>A (p.Arg628His)
NM_004795.4(KL):c.1918C>T (p.Pro640Ser)
NM_004795.4(KL):c.1933C>G (p.Gln645Glu)
NM_004795.4(KL):c.1946G>A (p.Arg649His)
NM_004795.4(KL):c.1957A>G (p.Arg653Gly)
NM_004795.4(KL):c.1966G>A (p.Ala656Thr)
NM_004795.4(KL):c.1977C>A (p.Asn659Lys)
NM_004795.4(KL):c.1978C>G (p.Pro660Ala)
NM_004795.4(KL):c.1979C>G (p.Pro660Arg)
NM_004795.4(KL):c.1987G>T (p.Ala663Ser)
NM_004795.4(KL):c.1994C>A (p.Ala665Asp)
NM_004795.4(KL):c.2012G>A (p.Arg671Gln)
NM_004795.4(KL):c.2012G>T (p.Arg671Leu)
NM_004795.4(KL):c.2022T>G (p.Phe674Leu)
NM_004795.4(KL):c.2041G>A (p.Val681Ile)
NM_004795.4(KL):c.2042T>C (p.Val681Ala)
NM_004795.4(KL):c.2047C>A (p.Leu683Ile)
NM_004795.4(KL):c.2089T>A (p.Tyr697Asn)
NM_004795.4(KL):c.2131T>C (p.Trp711Arg)
NM_004795.4(KL):c.2153T>G (p.Phe718Cys)
NM_004795.4(KL):c.2203A>T (p.Ile735Leu)
NM_004795.4(KL):c.2219C>T (p.Pro740Leu)
NM_004795.4(KL):c.2239G>A (p.Glu747Lys)
NM_004795.4(KL):c.2245_2247delinsTCC (p.Ala749Ser) rs1566509972
NM_004795.4(KL):c.2276G>A (p.Trp759Ter)
NM_004795.4(KL):c.2277G>T (p.Trp759Cys)
NM_004795.4(KL):c.2294T>C (p.Phe765Ser)
NM_004795.4(KL):c.2296G>A (p.Gly766Ser) rs114752661
NM_004795.4(KL):c.2296G>C (p.Gly766Arg) rs114752661
NM_004795.4(KL):c.2297G>C (p.Gly766Ala)
NM_004795.4(KL):c.234del (p.Gly79fs) rs775512230
NM_004795.4(KL):c.2379A>T (p.Glu793Asp)
NM_004795.4(KL):c.2417T>G (p.Leu806Ter)
NM_004795.4(KL):c.2438T>C (p.Leu813Pro)
NM_004795.4(KL):c.247C>T (p.His83Tyr)
NM_004795.4(KL):c.2505C>G (p.Asp835Glu) rs387907442
NM_004795.4(KL):c.2507T>C (p.Ile836Thr)
NM_004795.4(KL):c.250G>T (p.Gly84Cys)
NM_004795.4(KL):c.2548T>C (p.Trp850Arg)
NM_004795.4(KL):c.2593G>C (p.Asp865His)
NM_004795.4(KL):c.2596C>T (p.Leu866Phe)
NM_004795.4(KL):c.2602A>G (p.Met868Val)
NM_004795.4(KL):c.2615C>T (p.Ser872Phe)
NM_004795.4(KL):c.2619_2620inv (p.Gly874Arg)
NM_004795.4(KL):c.2632G>A (p.Gly878Arg)
NM_004795.4(KL):c.2639A>G (p.His880Arg)
NM_004795.4(KL):c.2647G>C (p.Asp883His)
NM_004795.4(KL):c.2650G>A (p.Asp884Asn)
NM_004795.4(KL):c.2672T>A (p.Met891Lys)
NM_004795.4(KL):c.2683A>G (p.Ile895Val) rs387907443
NM_004795.4(KL):c.2690A>G (p.Glu897Gly)
NM_004795.4(KL):c.2702-1G>C rs1566510826
NM_004795.4(KL):c.2768C>T (p.Pro923Leu)
NM_004795.4(KL):c.2790T>G (p.Tyr930Ter)
NM_004795.4(KL):c.2802G>T (p.Gln934His)
NM_004795.4(KL):c.2816C>T (p.Ala939Val)
NM_004795.4(KL):c.2822T>C (p.Met941Thr)
NM_004795.4(KL):c.2824A>C (p.Lys942Gln)
NM_004795.4(KL):c.2861C>T (p.Pro954Leu)
NM_004795.4(KL):c.2879A>T (p.Glu960Val)
NM_004795.4(KL):c.2905G>A (p.Val969Met)
NM_004795.4(KL):c.2933C>T (p.Thr978Ile)
NM_004795.4(KL):c.2986T>C (p.Ser996Pro)
NM_004795.4(KL):c.2992T>A (p.Ser998Thr)
NM_004795.4(KL):c.2998A>T (p.Ile1000Leu)
NM_004795.4(KL):c.2999T>C (p.Ile1000Thr)
NM_004795.4(KL):c.299C>T (p.Pro100Leu)
NM_004795.4(KL):c.3011C>T (p.Ser1004Leu)
NM_004795.4(KL):c.3020G>A (p.Gly1007Asp)
NM_004795.4(KL):c.3026G>A (p.Arg1009Lys)
NM_004795.4(KL):c.3029G>A (p.Ser1010Asn) rs387907446
NM_004795.4(KL):c.319G>T (p.Ala107Ser)
NM_004795.4(KL):c.333G>C (p.Leu111Phe)
NM_004795.4(KL):c.335G>C (p.Gly112Ala)
NM_004795.4(KL):c.337G>T (p.Ala113Ser)
NM_004795.4(KL):c.34CCG[5] (p.Pro15_Ser16insPro)
NM_004795.4(KL):c.370G>A (p.Val124Ile) rs1164662984
NM_004795.4(KL):c.379G>A (p.Asp127Asn) rs959288076
NM_004795.4(KL):c.38C>G (p.Pro13Arg)
NM_004795.4(KL):c.403G>T (p.Asp135Tyr)
NM_004795.4(KL):c.418C>T (p.Arg140Cys)
NM_004795.4(KL):c.419G>A (p.Arg140His)
NM_004795.4(KL):c.452T>C (p.Ile151Thr)
NM_004795.4(KL):c.466G>C (p.Val156Leu)
NM_004795.4(KL):c.46TCGCTG[1] (p.16SL[1])
NM_004795.4(KL):c.46TCGCTG[3] (p.16SL[3]) rs767552117
NM_004795.4(KL):c.478G>A (p.Gly160Ser)
NM_004795.4(KL):c.485C>T (p.Ala162Val)
NM_004795.4(KL):c.4C>T (p.Pro2Ser) rs1425467064
NM_004795.4(KL):c.511C>T (p.Arg171Cys) rs200517420
NM_004795.4(KL):c.514T>C (p.Tyr172His)
NM_004795.4(KL):c.521G>C (p.Arg174Pro)
NM_004795.4(KL):c.536G>A (p.Arg179Gln) rs2138183423
NM_004795.4(KL):c.541C>G (p.Arg181Gly)
NM_004795.4(KL):c.542G>A (p.Arg181Gln)
NM_004795.4(KL):c.544G>T (p.Glu182Ter) rs1870376906
NM_004795.4(KL):c.550G>A (p.Gly184Ser) rs2138183489
NM_004795.4(KL):c.559C>T (p.Pro187Ser)
NM_004795.4(KL):c.58C>G (p.Leu20Val) rs1230998891
NM_004795.4(KL):c.638C>A (p.Ala213Asp) rs748726818
NM_004795.4(KL):c.644A>G (p.His215Arg) rs1784312519
NM_004795.4(KL):c.695A>T (p.Lys232Met)
NM_004795.4(KL):c.709A>G (p.Ile237Val)
NM_004795.4(KL):c.721dup (p.Tyr241fs) rs2138184030
NM_004795.4(KL):c.730G>T (p.Ala244Ser)
NM_004795.4(KL):c.740_745dup (p.Tyr248_Ala249insGlyTyr)
NM_004795.4(KL):c.755G>A (p.Arg252His)
NM_004795.4(KL):c.761C>T (p.Ala254Val)
NM_004795.4(KL):c.7G>A (p.Ala3Thr)
NM_004795.4(KL):c.7G>T (p.Ala3Ser) rs1173135737
NM_004795.4(KL):c.832G>A (p.Val278Ile)
NM_004795.4(KL):c.832G>C (p.Val278Leu)
NM_004795.4(KL):c.850A>T (p.Thr284Ser)
NM_004795.4(KL):c.859C>A (p.Arg287Ser) rs766611991
NM_004795.4(KL):c.906G>A (p.Trp302Ter)
NM_004795.4(KL):c.928G>A (p.Asp310Asn)
NM_004795.4(KL):c.991G>A (p.Val331Ile)

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