ClinVar Miner

List of variants in gene KMT2C reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 231
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.7443-5A>T rs878978808 0.00447
NM_170606.3(KMT2C):c.7460G>A (p.Gly2487Asp) rs199850926 0.00009
NM_170606.3(KMT2C):c.12452C>T (p.Ser4151Phe) rs532797666 0.00005
NM_170606.3(KMT2C):c.3403A>G (p.Met1135Val) rs778507711 0.00005
NM_170606.3(KMT2C):c.9511T>C (p.Phe3171Leu) rs200919055 0.00005
NM_170606.3(KMT2C):c.10235G>A (p.Arg3412Gln) rs755625836 0.00003
NM_170606.3(KMT2C):c.13894+6G>A rs768878330 0.00003
NM_170606.3(KMT2C):c.3758A>C (p.Glu1253Ala) rs746101321 0.00003
NM_170606.3(KMT2C):c.5915C>A (p.Pro1972His) rs147274805 0.00003
NM_170606.3(KMT2C):c.7188G>C (p.Gln2396His) rs773147290 0.00003
NM_170606.3(KMT2C):c.7318C>A (p.Pro2440Thr) rs146701329 0.00003
NM_170606.3(KMT2C):c.12664A>G (p.Lys4222Glu) rs1339162677 0.00002
NM_170606.3(KMT2C):c.12794C>T (p.Pro4265Leu) rs751433649 0.00002
NM_170606.3(KMT2C):c.12815C>T (p.Thr4272Met) rs754010322 0.00002
NM_170606.3(KMT2C):c.1879G>C (p.Asp627His) rs767014711 0.00002
NM_170606.3(KMT2C):c.2198C>G (p.Ser733Cys) rs1375797311 0.00002
NM_170606.3(KMT2C):c.2353C>A (p.Pro785Thr) rs777757726 0.00002
NM_170606.3(KMT2C):c.2656C>T (p.Arg886Cys) rs199796679 0.00002
NM_170606.3(KMT2C):c.2855A>G (p.Lys952Arg) rs774181466 0.00002
NM_170606.3(KMT2C):c.3933T>G (p.Ile1311Met) rs1170386908 0.00002
NM_170606.3(KMT2C):c.446A>G (p.Asp149Gly) rs377103841 0.00002
NM_170606.3(KMT2C):c.5990G>A (p.Gly1997Asp) rs766793648 0.00002
NM_170606.3(KMT2C):c.8636A>G (p.Glu2879Gly) rs754699043 0.00002
NM_170606.3(KMT2C):c.10223A>G (p.Gln3408Arg) rs1259012096 0.00001
NM_170606.3(KMT2C):c.10239C>G (p.Ile3413Met) rs1422436901 0.00001
NM_170606.3(KMT2C):c.10307T>C (p.Met3436Thr) rs1341703878 0.00001
NM_170606.3(KMT2C):c.10331G>A (p.Ser3444Asn) rs370129110 0.00001
NM_170606.3(KMT2C):c.10814A>G (p.Lys3605Arg) rs1563200945 0.00001
NM_170606.3(KMT2C):c.10886T>C (p.Ile3629Thr) rs1358618609 0.00001
NM_170606.3(KMT2C):c.11429T>C (p.Leu3810Pro) rs1446281328 0.00001
NM_170606.3(KMT2C):c.11660A>G (p.His3887Arg) rs750387168 0.00001
NM_170606.3(KMT2C):c.11768C>T (p.Thr3923Ile) rs1048886135 0.00001
NM_170606.3(KMT2C):c.12163A>T (p.Ile4055Phe) rs912669251 0.00001
NM_170606.3(KMT2C):c.12280A>G (p.Ile4094Val) rs775955880 0.00001
NM_170606.3(KMT2C):c.12382A>T (p.Ser4128Cys) rs763785203 0.00001
NM_170606.3(KMT2C):c.12584C>T (p.Pro4195Leu) rs371529633 0.00001
NM_170606.3(KMT2C):c.12674G>A (p.Arg4225Gln) rs781715925 0.00001
NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu) rs1019760354 0.00001
NM_170606.3(KMT2C):c.13354C>A (p.Leu4452Ile) rs1259070282 0.00001
NM_170606.3(KMT2C):c.13609A>G (p.Ser4537Gly) rs1354764202 0.00001
NM_170606.3(KMT2C):c.1384C>A (p.Gln462Lys) rs2095579744 0.00001
NM_170606.3(KMT2C):c.13941G>T (p.Lys4647Asn) rs745406929 0.00001
NM_170606.3(KMT2C):c.14018G>A (p.Arg4673His) rs151112171 0.00001
NM_170606.3(KMT2C):c.1450C>T (p.His484Tyr) rs768156400 0.00001
NM_170606.3(KMT2C):c.1456A>C (p.Asn486His) rs1217278540 0.00001
NM_170606.3(KMT2C):c.2422G>T (p.Ala808Ser) rs1246596456 0.00001
NM_170606.3(KMT2C):c.2743G>A (p.Gly915Arg) rs2095260962 0.00001
NM_170606.3(KMT2C):c.3595C>T (p.Arg1199Trp) rs752813752 0.00001
NM_170606.3(KMT2C):c.3875G>A (p.Arg1292Gln) rs1268465923 0.00001
NM_170606.3(KMT2C):c.4592C>T (p.Ala1531Val) rs587778491 0.00001
NM_170606.3(KMT2C):c.461G>C (p.Arg154Thr) rs762516062 0.00001
NM_170606.3(KMT2C):c.4729T>G (p.Leu1577Val) rs759579664 0.00001
NM_170606.3(KMT2C):c.539C>A (p.Thr180Asn) rs993057943 0.00001
NM_170606.3(KMT2C):c.554A>G (p.Gln185Arg) rs1381952289 0.00001
NM_170606.3(KMT2C):c.572A>G (p.Lys191Arg) rs752226674 0.00001
NM_170606.3(KMT2C):c.5956C>T (p.Arg1986Trp) rs373888319 0.00001
NM_170606.3(KMT2C):c.599C>T (p.Ser200Phe) rs1371068832 0.00001
NM_170606.3(KMT2C):c.6008C>T (p.Thr2003Ile) rs587778495 0.00001
NM_170606.3(KMT2C):c.6134C>T (p.Thr2045Ile) rs2129120240 0.00001
NM_170606.3(KMT2C):c.6610G>A (p.Ala2204Thr) rs1431253492 0.00001
NM_170606.3(KMT2C):c.6714G>T (p.Met2238Ile) rs2093422550 0.00001
NM_170606.3(KMT2C):c.6827C>T (p.Pro2276Leu) rs1445885320 0.00001
NM_170606.3(KMT2C):c.6937T>C (p.Phe2313Leu) rs2093414203 0.00001
NM_170606.3(KMT2C):c.6975G>T (p.Gln2325His) rs1439170675 0.00001
NM_170606.3(KMT2C):c.7433A>G (p.His2478Arg) rs2093371503 0.00001
NM_170606.3(KMT2C):c.80C>T (p.Pro27Leu) rs769792555 0.00001
NM_170606.3(KMT2C):c.8686G>A (p.Ala2896Thr) rs758355940 0.00001
NM_170606.3(KMT2C):c.8800C>T (p.Pro2934Ser) rs770069367 0.00001
NM_170606.3(KMT2C):c.8819C>T (p.Pro2940Leu) rs1011541977 0.00001
NM_170606.3(KMT2C):c.8873T>A (p.Ile2958Lys) rs2093220716 0.00001
NM_170606.3(KMT2C):c.9062G>A (p.Gly3021Asp) rs753920391 0.00001
NM_170606.3(KMT2C):c.9203A>G (p.Gln3068Arg) rs758267182 0.00001
NM_170606.3(KMT2C):c.9725G>A (p.Ser3242Asn) rs1391811597 0.00001
NM_170606.3(KMT2C):c.9989C>G (p.Pro3330Arg) rs545625106 0.00001
NM_170606.3(KMT2C):c.10056G>C (p.Gln3352His)
NM_170606.3(KMT2C):c.10097C>T (p.Ala3366Val)
NM_170606.3(KMT2C):c.10124C>G (p.Pro3375Arg) rs911667347
NM_170606.3(KMT2C):c.10157A>T (p.Asp3386Val) rs2487691779
NM_170606.3(KMT2C):c.10166A>G (p.Asn3389Ser) rs370089659
NM_170606.3(KMT2C):c.10174A>G (p.Ser3392Gly) rs2487691693
NM_170606.3(KMT2C):c.10231C>G (p.Gln3411Glu)
NM_170606.3(KMT2C):c.10330A>C (p.Ser3444Arg) rs372413814
NM_170606.3(KMT2C):c.10335G>T (p.Arg3445Ser) rs1000200932
NM_170606.3(KMT2C):c.10336A>T (p.Thr3446Ser) rs902827242
NM_170606.3(KMT2C):c.10343T>C (p.Val3448Ala)
NM_170606.3(KMT2C):c.10380T>G (p.Cys3460Trp) rs773308409
NM_170606.3(KMT2C):c.10409A>C (p.Gln3470Pro) rs1236558367
NM_170606.3(KMT2C):c.10531G>T (p.Gly3511Cys)
NM_170606.3(KMT2C):c.10693A>G (p.Asn3565Asp) rs2487689207
NM_170606.3(KMT2C):c.10745A>C (p.Tyr3582Ser)
NM_170606.3(KMT2C):c.10825A>G (p.Lys3609Glu)
NM_170606.3(KMT2C):c.11000C>T (p.Ser3667Phe) rs2487687140
NM_170606.3(KMT2C):c.11063A>G (p.Asp3688Gly)
NM_170606.3(KMT2C):c.11287G>A (p.Ala3763Thr)
NM_170606.3(KMT2C):c.11322T>A (p.Asn3774Lys) rs2129103636
NM_170606.3(KMT2C):c.11351A>G (p.Lys3784Arg)
NM_170606.3(KMT2C):c.11422A>T (p.Asn3808Tyr) rs201156520
NM_170606.3(KMT2C):c.11428_11430dup (p.Leu3810_Val3811insLeu) rs773440423
NM_170606.3(KMT2C):c.11504A>G (p.Asn3835Ser) rs2129101621
NM_170606.3(KMT2C):c.11839T>G (p.Phe3947Val)
NM_170606.3(KMT2C):c.12142T>G (p.Ser4048Ala)
NM_170606.3(KMT2C):c.12155G>A (p.Arg4052Lys) rs951610702
NM_170606.3(KMT2C):c.12374G>A (p.Gly4125Asp) rs2091746763
NM_170606.3(KMT2C):c.12427C>G (p.Leu4143Val) rs530766982
NM_170606.3(KMT2C):c.12638C>G (p.Ser4213Cys) rs2129096667
NM_170606.3(KMT2C):c.12700G>A (p.Asp4234Asn)
NM_170606.3(KMT2C):c.12811G>C (p.Glu4271Gln)
NM_170606.3(KMT2C):c.12845A>G (p.Asn4282Ser) rs2129095710
NM_170606.3(KMT2C):c.12891G>C (p.Glu4297Asp) rs2487602160
NM_170606.3(KMT2C):c.13046A>T (p.Asn4349Ile)
NM_170606.3(KMT2C):c.13171A>C (p.Lys4391Gln) rs2487600779
NM_170606.3(KMT2C):c.13198C>T (p.Arg4400Trp) rs144905657
NM_170606.3(KMT2C):c.13577A>G (p.Tyr4526Cys) rs777449616
NM_170606.3(KMT2C):c.13648G>A (p.Val4550Met)
NM_170606.3(KMT2C):c.13688C>A (p.Pro4563Gln) rs2091332090
NM_170606.3(KMT2C):c.13925C>G (p.Ala4642Gly)
NM_170606.3(KMT2C):c.13946A>G (p.Glu4649Gly)
NM_170606.3(KMT2C):c.14483G>A (p.Arg4828His) rs1064796342
NM_170606.3(KMT2C):c.146A>G (p.Gln49Arg)
NM_170606.3(KMT2C):c.1505A>G (p.His502Arg) rs1467523251
NM_170606.3(KMT2C):c.1511T>G (p.Leu504Arg) rs2485856680
NM_170606.3(KMT2C):c.1532A>G (p.Glu511Gly) rs140279832
NM_170606.3(KMT2C):c.1652C>T (p.Pro551Leu) rs1402633722
NM_170606.3(KMT2C):c.1657G>T (p.Asp553Tyr)
NM_170606.3(KMT2C):c.1912T>G (p.Cys638Gly)
NM_170606.3(KMT2C):c.2024C>G (p.Thr675Arg)
NM_170606.3(KMT2C):c.2024C>T (p.Thr675Ile)
NM_170606.3(KMT2C):c.2077A>G (p.Thr693Ala) rs1306861797
NM_170606.3(KMT2C):c.2129G>A (p.Cys710Tyr) rs767385524
NM_170606.3(KMT2C):c.2209A>C (p.Met737Leu) rs553541527
NM_170606.3(KMT2C):c.2320G>A (p.Ala774Thr)
NM_170606.3(KMT2C):c.2614A>G (p.Arg872Gly) rs746453043
NM_170606.3(KMT2C):c.262C>A (p.Gln88Lys)
NM_170606.3(KMT2C):c.2705C>T (p.Ser902Leu)
NM_170606.3(KMT2C):c.3265G>C (p.Val1089Leu) rs2094857425
NM_170606.3(KMT2C):c.3385A>G (p.Ile1129Val) rs777278245
NM_170606.3(KMT2C):c.3458C>A (p.Ser1153Tyr) rs2129146609
NM_170606.3(KMT2C):c.3638G>A (p.Ser1213Asn)
NM_170606.3(KMT2C):c.3866A>G (p.Gln1289Arg) rs1174822708
NM_170606.3(KMT2C):c.3937G>C (p.Glu1313Gln)
NM_170606.3(KMT2C):c.3942G>T (p.Gln1314His)
NM_170606.3(KMT2C):c.3974A>G (p.Gln1325Arg)
NM_170606.3(KMT2C):c.4160C>T (p.Ser1387Leu)
NM_170606.3(KMT2C):c.4211T>G (p.Leu1404Trp) rs764395220
NM_170606.3(KMT2C):c.4237A>T (p.Ser1413Cys)
NM_170606.3(KMT2C):c.4252C>G (p.Pro1418Ala)
NM_170606.3(KMT2C):c.4394C>G (p.Thr1465Ser)
NM_170606.3(KMT2C):c.4426G>A (p.Val1476Ile)
NM_170606.3(KMT2C):c.4644G>T (p.Leu1548Phe)
NM_170606.3(KMT2C):c.4688A>G (p.Asn1563Ser)
NM_170606.3(KMT2C):c.4691G>T (p.Gly1564Val)
NM_170606.3(KMT2C):c.4745G>T (p.Gly1582Val)
NM_170606.3(KMT2C):c.4778C>T (p.Ser1593Phe)
NM_170606.3(KMT2C):c.4885A>G (p.Met1629Val) rs996844761
NM_170606.3(KMT2C):c.4893T>A (p.Asn1631Lys)
NM_170606.3(KMT2C):c.5078A>G (p.Tyr1693Cys)
NM_170606.3(KMT2C):c.5080G>A (p.Val1694Met)
NM_170606.3(KMT2C):c.5375A>G (p.His1792Arg)
NM_170606.3(KMT2C):c.5404C>G (p.Pro1802Ala)
NM_170606.3(KMT2C):c.5419C>G (p.Gln1807Glu) rs2129121010
NM_170606.3(KMT2C):c.5516C>T (p.Thr1839Met)
NM_170606.3(KMT2C):c.5551C>G (p.Gln1851Glu)
NM_170606.3(KMT2C):c.5575C>A (p.Pro1859Thr) rs2129120813
NM_170606.3(KMT2C):c.5627C>A (p.Pro1876Gln) rs2487800014
NM_170606.3(KMT2C):c.5632T>G (p.Ser1878Ala)
NM_170606.3(KMT2C):c.5687A>T (p.Asp1896Val) rs1018818602
NM_170606.3(KMT2C):c.5689C>T (p.Pro1897Ser)
NM_170606.3(KMT2C):c.5806C>T (p.Leu1936Phe)
NM_170606.3(KMT2C):c.6086C>G (p.Pro2029Arg) rs754727782
NM_170606.3(KMT2C):c.6107T>C (p.Leu2036Pro)
NM_170606.3(KMT2C):c.6164A>G (p.Asp2055Gly) rs772141315
NM_170606.3(KMT2C):c.6259C>T (p.His2087Tyr) rs1477418525
NM_170606.3(KMT2C):c.6277C>T (p.Pro2093Ser) rs1587999549
NM_170606.3(KMT2C):c.6379T>G (p.Ser2127Ala) rs2487796925
NM_170606.3(KMT2C):c.6385G>T (p.Asp2129Tyr)
NM_170606.3(KMT2C):c.6392A>G (p.Tyr2131Cys)
NM_170606.3(KMT2C):c.6418C>T (p.Pro2140Ser)
NM_170606.3(KMT2C):c.6469G>C (p.Asp2157His)
NM_170606.3(KMT2C):c.6509C>G (p.Thr2170Ser)
NM_170606.3(KMT2C):c.6520T>C (p.Tyr2174His) rs2487796301
NM_170606.3(KMT2C):c.6575C>T (p.Thr2192Ile)
NM_170606.3(KMT2C):c.6580G>A (p.Val2194Ile)
NM_170606.3(KMT2C):c.6623G>A (p.Gly2208Glu) rs2129119777
NM_170606.3(KMT2C):c.6656C>T (p.Ser2219Phe)
NM_170606.3(KMT2C):c.6737A>G (p.Asn2246Ser) rs2487795374
NM_170606.3(KMT2C):c.6796G>A (p.Val2266Ile)
NM_170606.3(KMT2C):c.6875C>T (p.Pro2292Leu)
NM_170606.3(KMT2C):c.6886C>T (p.Arg2296Cys)
NM_170606.3(KMT2C):c.6958C>G (p.His2320Asp)
NM_170606.3(KMT2C):c.6986G>C (p.Gly2329Ala) rs779376220
NM_170606.3(KMT2C):c.7100C>T (p.Thr2367Ile)
NM_170606.3(KMT2C):c.7102C>G (p.Gln2368Glu) rs1329642307
NM_170606.3(KMT2C):c.7336C>T (p.Pro2446Ser)
NM_170606.3(KMT2C):c.7386G>T (p.Gln2462His)
NM_170606.3(KMT2C):c.7443-21_7443-6del rs746018833
NM_170606.3(KMT2C):c.7591A>G (p.Met2531Val) rs750043881
NM_170606.3(KMT2C):c.7634G>A (p.Ser2545Asn) rs2129115454
NM_170606.3(KMT2C):c.7651C>T (p.His2551Tyr)
NM_170606.3(KMT2C):c.8033C>T (p.Thr2678Ile) rs749652990
NM_170606.3(KMT2C):c.8051G>A (p.Gly2684Asp)
NM_170606.3(KMT2C):c.80C>G (p.Pro27Arg) rs769792555
NM_170606.3(KMT2C):c.8168A>G (p.Asp2723Gly) rs770301493
NM_170606.3(KMT2C):c.8392G>C (p.Glu2798Gln) rs2129114146
NM_170606.3(KMT2C):c.8416C>T (p.Leu2806Phe)
NM_170606.3(KMT2C):c.8431T>C (p.Ser2811Pro) rs896573950
NM_170606.3(KMT2C):c.8467A>G (p.Lys2823Glu)
NM_170606.3(KMT2C):c.8577C>G (p.His2859Gln)
NM_170606.3(KMT2C):c.8591A>T (p.Asp2864Val) rs1175330866
NM_170606.3(KMT2C):c.8597A>C (p.Glu2866Ala) rs2093232962
NM_170606.3(KMT2C):c.8738G>A (p.Gly2913Glu)
NM_170606.3(KMT2C):c.8812C>A (p.Pro2938Thr)
NM_170606.3(KMT2C):c.8857A>T (p.Ser2953Cys) rs1478208996
NM_170606.3(KMT2C):c.8897A>G (p.Asp2966Gly) rs867690521
NM_170606.3(KMT2C):c.8921C>T (p.Thr2974Ile) rs2129113211
NM_170606.3(KMT2C):c.8923G>A (p.Val2975Ile)
NM_170606.3(KMT2C):c.892T>C (p.Cys298Arg)
NM_170606.3(KMT2C):c.8951C>T (p.Ser2984Phe)
NM_170606.3(KMT2C):c.8987G>T (p.Gly2996Val) rs2129113088
NM_170606.3(KMT2C):c.9040G>C (p.Gly3014Arg)
NM_170606.3(KMT2C):c.9086A>G (p.Gln3029Arg)
NM_170606.3(KMT2C):c.9191A>G (p.Gln3064Arg) rs1251152222
NM_170606.3(KMT2C):c.91G>C (p.Ala31Pro)
NM_170606.3(KMT2C):c.9342C>G (p.Asn3114Lys)
NM_170606.3(KMT2C):c.9364G>A (p.Val3122Met) rs1244312926
NM_170606.3(KMT2C):c.9397G>T (p.Val3133Leu) rs984841454
NM_170606.3(KMT2C):c.9440A>T (p.Gln3147Leu) rs2129108519
NM_170606.3(KMT2C):c.9550C>T (p.Leu3184Phe)
NM_170606.3(KMT2C):c.9649C>T (p.Arg3217Cys)
NM_170606.3(KMT2C):c.9707A>G (p.His3236Arg) rs773958097
NM_170606.3(KMT2C):c.9949A>G (p.Thr3317Ala) rs1173057703
NM_170606.3(KMT2C):c.9968A>T (p.His3323Leu) rs778241763

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.