ClinVar Miner

List of variants in gene KMT2C reported as not provided by ITMI

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Gene type:
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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.1577G>C (p.Arg526Pro) rs3735156 0.15750
NM_170606.3(KMT2C):c.10979C>T (p.Ser3660Leu) rs74483926 0.03261
NM_170606.3(KMT2C):c.1365A>G (p.Ile455Met) rs77652527 0.02594
NM_170606.3(KMT2C):c.7234C>A (p.Pro2412Thr) rs13231116 0.01838
NM_170606.3(KMT2C):c.6022A>G (p.Thr2008Ala) rs6951159 0.01061
NM_170606.3(KMT2C):c.181A>G (p.Thr61Ala) rs111826855 0.01038
NM_170606.3(KMT2C):c.7958T>C (p.Leu2653Pro) rs61730547 0.00869
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.11242G>A (p.Ala3748Thr) rs148366561 0.00448
NM_170606.3(KMT2C):c.8502A>T (p.Glu2834Asp) rs138845109 0.00321
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.12655C>G (p.Leu4219Val) rs139111507 0.00272
NM_170606.3(KMT2C):c.5587C>G (p.Pro1863Ala) rs142070663 0.00249
NM_170606.3(KMT2C):c.6275A>T (p.Asp2092Val) rs140719911 0.00247
NM_170606.3(KMT2C):c.11167G>C (p.Ala3723Pro) rs115580901 0.00245
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.11374C>A (p.Gln3792Lys) rs75191113 0.00137
NM_170606.3(KMT2C):c.1402C>A (p.Pro468Thr) rs140919432 0.00099
NM_170606.3(KMT2C):c.3487G>C (p.Val1163Leu) rs142546291 0.00075
NM_170606.3(KMT2C):c.9245C>T (p.Pro3082Leu) rs61730545 0.00070
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.8488A>C (p.Asn2830His) rs147851738 0.00048
NM_170606.3(KMT2C):c.1795G>T (p.Asp599Tyr) rs141579002 0.00046
NM_170606.3(KMT2C):c.9931C>T (p.Leu3311Phe) rs139610952 0.00043
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp) rs140626076 0.00036
NM_170606.3(KMT2C):c.10723A>G (p.Thr3575Ala) rs142997680 0.00035
NM_170606.3(KMT2C):c.7829G>A (p.Arg2610Gln) rs139770288 0.00034
NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile) rs138819584 0.00033
NM_170606.3(KMT2C):c.10024G>T (p.Ala3342Ser) rs144376311 0.00026
NM_170606.3(KMT2C):c.10403C>T (p.Pro3468Leu) rs565114967 0.00025
NM_170606.3(KMT2C):c.8552C>G (p.Thr2851Ser) rs151261105 0.00015
NM_170606.3(KMT2C):c.13246C>T (p.Pro4416Ser) rs201443050 0.00014
NM_170606.3(KMT2C):c.4154A>G (p.Asn1385Ser) rs61730535 0.00014
NM_170606.3(KMT2C):c.5792C>T (p.Ser1931Leu) rs200297010 0.00014
NM_170606.3(KMT2C):c.3275G>A (p.Arg1092Gln) rs150747860 0.00013
NM_170606.3(KMT2C):c.6965T>C (p.Val2322Ala) rs373237480 0.00013
NM_170606.3(KMT2C):c.9974G>T (p.Ser3325Ile) rs202148187 0.00013
NM_170606.3(KMT2C):c.4442G>A (p.Arg1481Gln) rs587778490 0.00010
NM_170606.3(KMT2C):c.7846C>T (p.Pro2616Ser) rs142938767 0.00010
NM_170606.3(KMT2C):c.10928C>T (p.Thr3643Ile) rs587778504 0.00006
NM_170606.3(KMT2C):c.13522C>T (p.Pro4508Ser) rs182572555 0.00006
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser) rs12674022 0.00006
NM_170606.3(KMT2C):c.5861C>G (p.Ser1954Cys) rs563948892 0.00006
NM_170606.3(KMT2C):c.11173A>C (p.Thr3725Pro) rs143269206 0.00005
NM_170606.3(KMT2C):c.12755C>T (p.Ala4252Val) rs537579296 0.00004
NM_170606.3(KMT2C):c.14107G>A (p.Val4703Ile) rs369684496 0.00004
NM_170606.3(KMT2C):c.14017C>T (p.Arg4673Cys) rs370620314 0.00003
NM_170606.3(KMT2C):c.8449A>G (p.Thr2817Ala) rs587778499 0.00003
NM_170606.3(KMT2C):c.12370A>G (p.Met4124Val) rs587778509 0.00002
NM_170606.3(KMT2C):c.6896A>G (p.Tyr2299Cys) rs587778494 0.00002
NM_170606.3(KMT2C):c.9425A>G (p.Gln3142Arg) rs587778502 0.00002
NM_170606.3(KMT2C):c.11149G>C (p.Glu3717Gln) rs587778506 0.00001
NM_170606.3(KMT2C):c.11614G>A (p.Glu3872Lys) rs201674711 0.00001
NM_170606.3(KMT2C):c.4592C>T (p.Ala1531Val) rs587778491 0.00001
NM_170606.3(KMT2C):c.5903A>G (p.Asp1968Gly) rs587778493 0.00001
NM_170606.3(KMT2C):c.6008C>T (p.Thr2003Ile) rs587778495 0.00001
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val) rs587778510 0.00001
NM_170606.3(KMT2C):c.8459A>G (p.Asn2820Ser) rs587778500 0.00001
NM_170606.3(KMT2C):c.8507A>G (p.Lys2836Arg) rs142267328 0.00001
NM_170606.3(KMT2C):c.9989C>G (p.Pro3330Arg) rs545625106 0.00001
NM_170606.3(KMT2C):c.10163A>G (p.Asn3388Ser) rs200302468
NM_170606.3(KMT2C):c.10444G>A (p.Val3482Ile) rs587778505
NM_170606.3(KMT2C):c.10894C>T (p.Pro3632Ser) rs587778503
NM_170606.3(KMT2C):c.11493T>G (p.Phe3831Leu) rs587778507
NM_170606.3(KMT2C):c.11581G>A (p.Ala3861Thr) rs147946863
NM_170606.3(KMT2C):c.11942A>C (p.Asn3981Thr) rs587778508
NM_170606.3(KMT2C):c.12964C>T (p.Pro4322Ser) rs587778511
NM_170606.3(KMT2C):c.13967C>A (p.Ala4656Glu) rs587778512
NM_170606.3(KMT2C):c.1421ATC[1] (p.His475del) rs587778488
NM_170606.3(KMT2C):c.1577G>A (p.Arg526His) rs3735156
NM_170606.3(KMT2C):c.1645G>A (p.Glu549Lys) rs587778489
NM_170606.3(KMT2C):c.5352ACA[3] (p.Gln1787dup) rs587778492
NM_170606.3(KMT2C):c.5809C>G (p.Gln1937Glu) rs374061571
NM_170606.3(KMT2C):c.6197G>A (p.Arg2066Gln) rs587778498
NM_170606.3(KMT2C):c.6461C>G (p.Ser2154Cys) rs587778496
NM_170606.3(KMT2C):c.6634C>G (p.Pro2212Ala) rs587778497
NM_170606.3(KMT2C):c.7259T>G (p.Leu2420Arg) rs200810583
NM_170606.3(KMT2C):c.9071G>C (p.Ser3024Thr) rs587778501

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