ClinVar Miner

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

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.6530A>G (p.Gln2177Arg) rs201637035 0.00011
NM_170606.3(KMT2C):c.10957C>T (p.Pro3653Ser) rs771311951 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
GRCh37/hg19 7q36.1(chr7:151833917-151864463)x3
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.11030G>T (p.Cys3677Phe) rs138012441
NM_170606.3(KMT2C):c.11167G>A (p.Ala3723Thr) rs115580901
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.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.1261G>A (p.Val421Ile)
NM_170606.3(KMT2C):c.12932C>T (p.Pro4311Leu)
NM_170606.3(KMT2C):c.13000C>T (p.Arg4334Trp)
NM_170606.3(KMT2C):c.13603A>G (p.Ile4535Val)
NM_170606.3(KMT2C):c.13884C>G (p.Ile4628Met)
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.14669T>A (p.Phe4890Tyr) rs2089918301
NM_170606.3(KMT2C):c.2117G>A (p.Ser706Asn)
NM_170606.3(KMT2C):c.2795A>G (p.Asn932Ser)
NM_170606.3(KMT2C):c.3434-7dup
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.4513A>C (p.Ile1505Leu) rs1267002120
NM_170606.3(KMT2C):c.4638G>T (p.Gln1546His)
NM_170606.3(KMT2C):c.4939G>C (p.Glu1647Gln)
NM_170606.3(KMT2C):c.5017A>G (p.Thr1673Ala)
NM_170606.3(KMT2C):c.56C>T (p.Pro19Leu)
NM_170606.3(KMT2C):c.5845G>A (p.Val1949Ile) rs1588003806
NM_170606.3(KMT2C):c.6104C>T (p.Pro2035Leu)
NM_170606.3(KMT2C):c.6335C>T (p.Pro2112Leu)
NM_170606.3(KMT2C):c.6977C>G (p.Pro2326Arg) rs373659489
NM_170606.3(KMT2C):c.6985G>A (p.Gly2329Arg)
NM_170606.3(KMT2C):c.7588C>G (p.Gln2530Glu)
NM_170606.3(KMT2C):c.817G>A (p.Val273Met)
NM_170606.3(KMT2C):c.8752C>A (p.Leu2918Ile)
NM_170606.3(KMT2C):c.8879C>T (p.Pro2960Leu)
NM_170606.3(KMT2C):c.9426G>T (p.Gln3142His)
NM_170606.3(KMT2C):c.9670C>T (p.Arg3224Cys) rs760393462

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