ClinVar Miner

List of variants in gene KMT2C reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.13033T>C (p.Cys4345Arg) rs780138876 0.00003
NM_170606.3(KMT2C):c.6791C>T (p.Pro2264Leu) rs780064766 0.00003
NM_170606.3(KMT2C):c.13598G>A (p.Arg4533Gln) rs769432614 0.00002
NM_170606.3(KMT2C):c.1621+7T>C rs1432643437 0.00002
NM_170606.3(KMT2C):c.10239C>G (p.Ile3413Met) rs1422436901 0.00001
NM_170606.3(KMT2C):c.12250A>G (p.Ile4084Val) rs200466696 0.00001
NM_170606.3(KMT2C):c.12806T>C (p.Met4269Thr) rs895237296 0.00001
NM_170606.3(KMT2C):c.1331G>A (p.Arg444Gln) rs760928040 0.00001
NM_170606.3(KMT2C):c.1763A>G (p.Gln588Arg) rs768277427 0.00001
NM_170606.3(KMT2C):c.56C>G (p.Pro19Arg) rs1043931017 0.00001
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn) rs781220804 0.00001
NM_170606.3(KMT2C):c.6008C>T (p.Thr2003Ile) rs587778495 0.00001
NM_170606.3(KMT2C):c.6115G>C (p.Gly2039Arg) rs376573154 0.00001
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val) rs587778510 0.00001
NM_170606.3(KMT2C):c.9041G>T (p.Gly3014Val) rs2093213467 0.00001
NC_000007.13:g.(?_151832009)_(151853432_151855947)dup
NC_000007.13:g.(?_151832009)_(151960216_151962122)dup
NM_170606.3(KMT2C):c.10654_10655delinsCA (p.Ser3552His)
NM_170606.3(KMT2C):c.10757C>T (p.Thr3586Ile)
NM_170606.3(KMT2C):c.11167G>A (p.Ala3723Thr) rs115580901
NM_170606.3(KMT2C):c.11171_11174delinsTGAG (p.Glu3724_Thr3725delinsValArg) rs2487685495
NM_170606.3(KMT2C):c.11248G>T (p.Ala3750Ser) rs747954521
NM_170606.3(KMT2C):c.11350A>G (p.Lys3784Glu) rs2487684460
NM_170606.3(KMT2C):c.11807A>G (p.His3936Arg)
NM_170606.3(KMT2C):c.12434G>T (p.Arg4145Leu) rs143770207
NM_170606.3(KMT2C):c.12436G>T (p.Gly4146Trp) rs2091739654
NM_170606.3(KMT2C):c.12935C>G (p.Ala4312Gly)
NM_170606.3(KMT2C):c.1300A>C (p.Asn434His)
NM_170606.3(KMT2C):c.13462G>A (p.Ala4488Thr)
NM_170606.3(KMT2C):c.14101C>T (p.Leu4701Phe) rs772587003
NM_170606.3(KMT2C):c.14423A>C (p.Glu4808Ala)
NM_170606.3(KMT2C):c.170G>A (p.Ser57Asn)
NM_170606.3(KMT2C):c.199G>C (p.Asp67His)
NM_170606.3(KMT2C):c.225AGAAAC[1] (p.76ET[1]) rs760869712
NM_170606.3(KMT2C):c.2573G>T (p.Trp858Leu) rs111493987
NM_170606.3(KMT2C):c.2578C>T (p.Pro860Ser) rs112515611
NM_170606.3(KMT2C):c.2671C>A (p.Pro891Thr) rs2095262954
NM_170606.3(KMT2C):c.2770G>A (p.Val924Met)
NM_170606.3(KMT2C):c.4112A>G (p.Asp1371Gly) rs1206457248
NM_170606.3(KMT2C):c.4420C>T (p.Pro1474Ser)
NM_170606.3(KMT2C):c.4672C>T (p.Arg1558Trp)
NM_170606.3(KMT2C):c.5215C>G (p.Pro1739Ala)
NM_170606.3(KMT2C):c.5563C>T (p.Pro1855Ser)
NM_170606.3(KMT2C):c.6344C>A (p.Ala2115Asp)
NM_170606.3(KMT2C):c.6391T>A (p.Tyr2131Asn)
NM_170606.3(KMT2C):c.6416G>A (p.Arg2139Gln)
NM_170606.3(KMT2C):c.6469G>C (p.Asp2157His)
NM_170606.3(KMT2C):c.6865C>T (p.Arg2289Cys)
NM_170606.3(KMT2C):c.7131_7136del (p.Asp2377_Thr2378del)
NM_170606.3(KMT2C):c.7310C>G (p.Pro2437Arg)
NM_170606.3(KMT2C):c.7504C>G (p.Pro2502Ala)
NM_170606.3(KMT2C):c.8812CCA[5] (p.Pro2941_Thr2942insPro)
NM_170606.3(KMT2C):c.9263-6T>A
NM_170606.3(KMT2C):c.9488A>G (p.Asn3163Ser)
NM_170606.3(KMT2C):c.9979G>A (p.Val3327Ile) rs868100053

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