ClinVar Miner

List of variants in gene KMT2C reported by CeGaT Center for Human Genetics Tuebingen

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.7491C>T (p.Arg2497=) rs117187677 0.00662
NM_170606.3(KMT2C):c.7957C>G (p.Leu2653Val) rs149373512 0.00630
NM_170606.3(KMT2C):c.3955G>C (p.Asp1319His) rs138119145 0.00530
NM_170606.3(KMT2C):c.7443-5A>T rs878978808 0.00447
NM_170606.3(KMT2C):c.10911C>T (p.Ile3637=) rs138353962 0.00440
NM_170606.3(KMT2C):c.5952A>C (p.Leu1984=) rs61730539 0.00305
NM_170606.3(KMT2C):c.10432C>G (p.Gln3478Glu) rs142835638 0.00303
NM_170606.3(KMT2C):c.10763C>T (p.Ser3588Leu) rs148585727 0.00295
NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=) rs140482040 0.00273
NM_170606.3(KMT2C):c.12655C>G (p.Leu4219Val) rs139111507 0.00272
NM_170606.3(KMT2C):c.5587C>G (p.Pro1863Ala) rs142070663 0.00249
NM_170606.3(KMT2C):c.11167G>C (p.Ala3723Pro) rs115580901 0.00245
NM_170606.3(KMT2C):c.14022A>T (p.Ile4674=) rs143292008 0.00238
NM_170606.3(KMT2C):c.2016A>T (p.Glu672Asp) rs114419085 0.00230
NM_170606.3(KMT2C):c.6667G>A (p.Ala2223Thr) rs140432708 0.00228
NM_170606.3(KMT2C):c.6073T>A (p.Ser2025Thr) rs141338021 0.00208
NM_170606.3(KMT2C):c.12570C>T (p.Ser4190=) rs149872298 0.00178
NM_170606.3(KMT2C):c.8943T>C (p.His2981=) rs150519030 0.00160
NM_170606.3(KMT2C):c.1422T>C (p.Tyr474=) rs143564227 0.00150
NM_170606.3(KMT2C):c.5631C>G (p.Pro1877=) rs149026515 0.00137
NM_170606.3(KMT2C):c.8880G>A (p.Pro2960=) rs138942112 0.00136
NM_170606.3(KMT2C):c.11865C>T (p.Asp3955=) rs147168446 0.00106
NM_170606.3(KMT2C):c.1402C>A (p.Pro468Thr) rs140919432 0.00099
NM_170606.3(KMT2C):c.5532T>C (p.Asp1844=) rs151322246 0.00098
NM_170606.3(KMT2C):c.9138T>A (p.Leu3046=) rs138871839 0.00081
NM_170606.3(KMT2C):c.9245C>T (p.Pro3082Leu) rs61730545 0.00070
NM_170606.3(KMT2C):c.7233A>G (p.Ser2411=) rs138464665 0.00062
NM_170606.3(KMT2C):c.4986C>G (p.Pro1662=) rs146275250 0.00060
NM_170606.3(KMT2C):c.10299G>A (p.Gln3433=) rs139153777 0.00056
NM_170606.3(KMT2C):c.10639T>C (p.Ser3547Pro) rs78004519 0.00054
NM_170606.3(KMT2C):c.1344G>T (p.Gln448His) rs149250254 0.00054
NM_170606.3(KMT2C):c.7881A>G (p.Gln2627=) rs143147669 0.00048
NM_170606.3(KMT2C):c.8488A>C (p.Asn2830His) rs147851738 0.00048
NM_170606.3(KMT2C):c.1795G>T (p.Asp599Tyr) rs141579002 0.00046
NM_170606.3(KMT2C):c.4272C>T (p.His1424=) rs200156200 0.00046
NM_170606.3(KMT2C):c.9931C>T (p.Leu3311Phe) rs139610952 0.00043
NM_170606.3(KMT2C):c.13931T>G (p.Val4644Gly) rs142657994 0.00035
NM_170606.3(KMT2C):c.6609T>C (p.Tyr2203=) rs145094194 0.00034
NM_170606.3(KMT2C):c.12239T>C (p.Ile4080Thr) rs150192787 0.00031
NM_170606.3(KMT2C):c.2238G>A (p.Glu746=) rs138565768 0.00029
NM_170606.3(KMT2C):c.13023G>A (p.Gly4341=) rs142711314 0.00028
NM_170606.3(KMT2C):c.8457C>T (p.Thr2819=) rs141305805 0.00028
NM_170606.3(KMT2C):c.2289A>T (p.Ser763=) rs374012675 0.00027
NM_170606.3(KMT2C):c.5456T>C (p.Met1819Thr) rs201351659 0.00023
NM_170606.3(KMT2C):c.1299+15T>G rs180949226 0.00022
NM_170606.3(KMT2C):c.12557G>A (p.Gly4186Asp) rs201079078 0.00017
NM_170606.3(KMT2C):c.10992C>A (p.Val3664=) rs149510534 0.00016
NM_170606.3(KMT2C):c.12552T>C (p.Ser4184=) rs369593556 0.00013
NM_170606.3(KMT2C):c.6383A>C (p.Gln2128Pro) rs368424013 0.00011
NM_170606.3(KMT2C):c.6530A>G (p.Gln2177Arg) rs201637035 0.00011
NM_170606.3(KMT2C):c.14463C>T (p.Asn4821=) rs375023167 0.00009
NM_170606.3(KMT2C):c.14550G>A (p.Ser4850=) rs575625744 0.00006
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser) rs12674022 0.00006
NM_170606.3(KMT2C):c.4379-5T>C rs764664193 0.00006
NM_170606.3(KMT2C):c.5861C>G (p.Ser1954Cys) rs563948892 0.00006
NM_170606.3(KMT2C):c.5634A>C (p.Ser1878=) rs558012126 0.00004
NM_170606.3(KMT2C):c.9159A>T (p.Leu3053=) rs559730393 0.00004
NM_170606.3(KMT2C):c.6607T>C (p.Tyr2203His) rs375661369 0.00003
NM_170606.3(KMT2C):c.10957C>T (p.Pro3653Ser) rs771311951 0.00002
NM_170606.3(KMT2C):c.1223C>T (p.Thr408Met) rs773970643 0.00002
NM_170606.3(KMT2C):c.13789C>T (p.Arg4597Cys) rs543734103 0.00002
NM_170606.3(KMT2C):c.4576G>T (p.Ala1526Ser) rs534362919 0.00002
NM_170606.3(KMT2C):c.4332T>C (p.Ile1444=) rs757130536 0.00001
NM_170606.3(KMT2C):c.4848A>G (p.Thr1616=) rs375643789 0.00001
NM_170606.3(KMT2C):c.9564A>G (p.Gln3188=) rs561821779 0.00001
GRCh37/hg19 7q36.1(chr7:151833917-151864463)x3
NM_170606.3(KMT2C):c.10040A>G (p.Asn3347Ser)
NM_170606.3(KMT2C):c.10061C>T (p.Pro3354Leu)
NM_170606.3(KMT2C):c.10216G>A (p.Glu3406Lys) rs1057518278
NM_170606.3(KMT2C):c.10591T>G (p.Ser3531Ala) rs2129104146
NM_170606.3(KMT2C):c.10931C>T (p.Pro3644Leu) rs2129103910
NM_170606.3(KMT2C):c.10992C>T (p.Val3664=) rs149510534
NM_170606.3(KMT2C):c.11030G>T (p.Cys3677Phe) rs138012441
NM_170606.3(KMT2C):c.11124C>T (p.Ser3708=)
NM_170606.3(KMT2C):c.11167G>A (p.Ala3723Thr) rs115580901
NM_170606.3(KMT2C):c.11343G>A (p.Leu3781=) rs2092494610
NM_170606.3(KMT2C):c.11442G>T (p.Gln3814His)
NM_170606.3(KMT2C):c.11486G>A (p.Gly3829Asp)
NM_170606.3(KMT2C):c.11591G>C (p.Arg3864Pro)
NM_170606.3(KMT2C):c.11694A>G (p.Pro3898=)
NM_170606.3(KMT2C):c.11768C>T (p.Thr3923Ile)
NM_170606.3(KMT2C):c.11790C>T (p.Ala3930=)
NM_170606.3(KMT2C):c.12093G>A (p.Pro4031=)
NM_170606.3(KMT2C):c.12226A>G (p.Arg4076Gly)
NM_170606.3(KMT2C):c.12227G>C (p.Arg4076Thr)
NM_170606.3(KMT2C):c.12335G>T (p.Ser4112Ile) rs780029434
NM_170606.3(KMT2C):c.12444G>A (p.Pro4148=)
NM_170606.3(KMT2C):c.12444G>T (p.Pro4148=) rs147957197
NM_170606.3(KMT2C):c.12558T>C (p.Gly4186=)
NM_170606.3(KMT2C):c.12566A>G (p.Glu4189Gly)
NM_170606.3(KMT2C):c.1261G>A (p.Val421Ile)
NM_170606.3(KMT2C):c.12720T>C (p.Asn4240=) rs2129096403
NM_170606.3(KMT2C):c.12795A>G (p.Pro4265=)
NM_170606.3(KMT2C):c.12815C>T (p.Thr4272Met)
NM_170606.3(KMT2C):c.12932C>T (p.Pro4311Leu)
NM_170606.3(KMT2C):c.1299+111A>G
NM_170606.3(KMT2C):c.13000C>T (p.Arg4334Trp)
NM_170606.3(KMT2C):c.13023G>T (p.Gly4341=)
NM_170606.3(KMT2C):c.13603A>G (p.Ile4535Val)
NM_170606.3(KMT2C):c.13614C>T (p.Ile4538=)
NM_170606.3(KMT2C):c.13758C>T (p.Tyr4586=) rs1238376994
NM_170606.3(KMT2C):c.13884C>G (p.Ile4628Met)
NM_170606.3(KMT2C):c.14025G>A (p.Ala4675=)
NM_170606.3(KMT2C):c.1402C>G (p.Pro468Ala) rs140919432
NM_170606.3(KMT2C):c.1416G>T (p.Lys472Asn) rs1588609413
NM_170606.3(KMT2C):c.1436A>C (p.Gln479Pro) rs2129166833
NM_170606.3(KMT2C):c.14403C>A (p.Ile4801=)
NM_170606.3(KMT2C):c.14644-8G>A
NM_170606.3(KMT2C):c.14669T>A (p.Phe4890Tyr) rs2089918301
NM_170606.3(KMT2C):c.162-2A>G rs1359208225
NM_170606.3(KMT2C):c.1863T>A (p.Asn621Lys)
NM_170606.3(KMT2C):c.1925A>G (p.Gln642Arg)
NM_170606.3(KMT2C):c.2066T>C (p.Met689Thr)
NM_170606.3(KMT2C):c.2117G>A (p.Ser706Asn)
NM_170606.3(KMT2C):c.2194C>T (p.Leu732Phe)
NM_170606.3(KMT2C):c.2233A>G (p.Ile745Val)
NM_170606.3(KMT2C):c.2469T>C (p.Ile823=)
NM_170606.3(KMT2C):c.2532+6G>A
NM_170606.3(KMT2C):c.2538T>C (p.Ala846=)
NM_170606.3(KMT2C):c.2662T>A (p.Ser888Thr)
NM_170606.3(KMT2C):c.2675G>A (p.Gly892Glu)
NM_170606.3(KMT2C):c.2697A>G (p.Ala899=)
NM_170606.3(KMT2C):c.2710C>T (p.Arg904Ter)
NM_170606.3(KMT2C):c.2749G>A (p.Gly917Arg)
NM_170606.3(KMT2C):c.2795A>G (p.Asn932Ser)
NM_170606.3(KMT2C):c.2889T>C (p.Cys963=)
NM_170606.3(KMT2C):c.3084_3085del (p.Cys1028_Asp1029delinsTer) rs2129147984
NM_170606.3(KMT2C):c.3158+6C>G rs2094868941
NM_170606.3(KMT2C):c.3291A>T (p.Glu1097Asp)
NM_170606.3(KMT2C):c.3306A>G (p.Gln1102=)
NM_170606.3(KMT2C):c.3384C>T (p.Asp1128=)
NM_170606.3(KMT2C):c.3434-7dup
NM_170606.3(KMT2C):c.3570C>A (p.Leu1190=)
NM_170606.3(KMT2C):c.366T>C (p.Ser122=)
NM_170606.3(KMT2C):c.3842-7dup rs1002481609
NM_170606.3(KMT2C):c.3882G>A (p.Gly1294=) rs776004967
NM_170606.3(KMT2C):c.3939G>A (p.Glu1313=) rs2094266775
NM_170606.3(KMT2C):c.402C>T (p.Cys134=)
NM_170606.3(KMT2C):c.4092+1G>A
NM_170606.3(KMT2C):c.4124C>A (p.Thr1375Lys) rs759226598
NM_170606.3(KMT2C):c.4127G>A (p.Ser1376Asn)
NM_170606.3(KMT2C):c.4367_4369dup (p.Val1456_Asp1457insVal) rs2129130791
NM_170606.3(KMT2C):c.4470G>C (p.Gly1490=)
NM_170606.3(KMT2C):c.4476dup (p.Ser1493fs)
NM_170606.3(KMT2C):c.4485A>G (p.Glu1495=)
NM_170606.3(KMT2C):c.4513A>C (p.Ile1505Leu) rs1267002120
NM_170606.3(KMT2C):c.4575A>G (p.Thr1525=)
NM_170606.3(KMT2C):c.4638G>T (p.Gln1546His)
NM_170606.3(KMT2C):c.4782T>C (p.Tyr1594=)
NM_170606.3(KMT2C):c.4939G>C (p.Glu1647Gln)
NM_170606.3(KMT2C):c.5017A>G (p.Thr1673Ala)
NM_170606.3(KMT2C):c.5125G>A (p.Val1709Ile) rs1588014369
NM_170606.3(KMT2C):c.5292A>G (p.Gln1764=)
NM_170606.3(KMT2C):c.5523A>G (p.Thr1841=)
NM_170606.3(KMT2C):c.5683A>G (p.Met1895Val)
NM_170606.3(KMT2C):c.56C>T (p.Pro19Leu)
NM_170606.3(KMT2C):c.5845G>A (p.Val1949Ile) rs1588003806
NM_170606.3(KMT2C):c.6038G>A (p.Arg2013Lys)
NM_170606.3(KMT2C):c.6069T>A (p.Pro2023=)
NM_170606.3(KMT2C):c.6104C>T (p.Pro2035Leu)
NM_170606.3(KMT2C):c.6189A>C (p.Ala2063=)
NM_170606.3(KMT2C):c.6335C>T (p.Pro2112Leu)
NM_170606.3(KMT2C):c.6339A>C (p.Ser2113=) rs73161892
NM_170606.3(KMT2C):c.6339A>G (p.Ser2113=) rs73161892
NM_170606.3(KMT2C):c.6417A>T (p.Arg2139=)
NM_170606.3(KMT2C):c.6535C>G (p.Gln2179Glu)
NM_170606.3(KMT2C):c.6756A>G (p.Gln2252=)
NM_170606.3(KMT2C):c.6866G>A (p.Arg2289His)
NM_170606.3(KMT2C):c.6977C>G (p.Pro2326Arg) rs373659489
NM_170606.3(KMT2C):c.6985G>A (p.Gly2329Arg)
NM_170606.3(KMT2C):c.7215G>A (p.Glu2405=)
NM_170606.3(KMT2C):c.739+1G>A rs2129200410
NM_170606.3(KMT2C):c.740-5T>C
NM_170606.3(KMT2C):c.7443-2dup rs753425356
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTA
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTA
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTA rs1491309235
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTA rs1491309235
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTA rs1491309235
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTTA
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTTTA
NM_170606.3(KMT2C):c.7443-6_7443-5insTTTTTTTTTTTTA
NM_170606.3(KMT2C):c.7472C>T (p.Thr2491Ile)
NM_170606.3(KMT2C):c.7588C>G (p.Gln2530Glu)
NM_170606.3(KMT2C):c.7743T>G (p.Val2581=)
NM_170606.3(KMT2C):c.817G>A (p.Val273Met)
NM_170606.3(KMT2C):c.8181C>T (p.Gly2727=)
NM_170606.3(KMT2C):c.8341A>G (p.Ile2781Val)
NM_170606.3(KMT2C):c.8697A>G (p.Gln2899=)
NM_170606.3(KMT2C):c.8752C>A (p.Leu2918Ile)
NM_170606.3(KMT2C):c.8879C>T (p.Pro2960Leu)
NM_170606.3(KMT2C):c.903A>G (p.Lys301=)
NM_170606.3(KMT2C):c.9087A>G (p.Gln3029=)
NM_170606.3(KMT2C):c.9426G>T (p.Gln3142His)
NM_170606.3(KMT2C):c.9670C>T (p.Arg3224Cys) rs760393462
NM_170606.3(KMT2C):c.9976C>A (p.Pro3326Thr)

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