ClinVar Miner

List of variants in gene KMT2A reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.10318A>G (p.Ile3440Val) rs117099452 0.00190
NM_001197104.2(KMT2A):c.5631G>A (p.Ala1877=) rs147764171 0.00118
NM_001197104.2(KMT2A):c.2965C>T (p.Leu989Phe) rs139989306 0.00101
NM_001197104.2(KMT2A):c.3974G>A (p.Ser1325Asn) rs149404438 0.00097
NM_001197104.2(KMT2A):c.6009C>T (p.Asp2003=) rs77421119 0.00086
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) rs139227835 0.00065
NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser) rs147014136 0.00051
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) rs150328852 0.00046
NM_001197104.2(KMT2A):c.3634+4G>A rs367948360 0.00024
NM_001197104.2(KMT2A):c.8632C>T (p.Leu2878=) rs150502030 0.00021
NM_001197104.2(KMT2A):c.8965G>A (p.Glu2989Lys) rs143843795 0.00019
NM_001197104.2(KMT2A):c.10746A>T (p.Ser3582=) rs9332844 0.00016
NM_001197104.2(KMT2A):c.4086+8G>C rs200865931 0.00012
NM_001197104.2(KMT2A):c.6081G>T (p.Gly2027=) rs142830885 0.00011
NM_001197104.2(KMT2A):c.9947C>T (p.Ala3316Val) rs201447376 0.00011
NM_001197104.2(KMT2A):c.810T>C (p.Ile270=) rs144694397 0.00010
NM_001197104.2(KMT2A):c.6492G>A (p.Pro2164=) rs145452548 0.00009
NM_001197104.2(KMT2A):c.1509G>C (p.Arg503=) rs374716873 0.00004
NM_001197104.2(KMT2A):c.7062T>C (p.Phe2354=) rs782164421 0.00003
NM_001197104.2(KMT2A):c.8784A>G (p.Leu2928=) rs782565279 0.00003
NM_001197104.2(KMT2A):c.10418G>A (p.Arg3473His) rs782670360 0.00002
NM_001197104.2(KMT2A):c.10863G>C (p.Gln3621His) rs781816624 0.00002
NM_001197104.2(KMT2A):c.10901-5A>G rs369909433 0.00002
NM_001197104.2(KMT2A):c.3907C>G (p.Leu1303Val) rs782491835 0.00002
NM_001197104.2(KMT2A):c.10326C>T (p.Ala3442=) rs1020726478 0.00001
NM_001197104.2(KMT2A):c.2004T>G (p.Ser668=) rs147102502 0.00001
NM_001197104.2(KMT2A):c.6894C>T (p.Asp2298=) rs782004426 0.00001
NM_001197104.2(KMT2A):c.8229T>A (p.Ile2743=) rs781967523 0.00001
NM_001197104.2(KMT2A):c.9177G>A (p.Pro3059=) rs1054482036 0.00001
NM_001197104.2(KMT2A):c.9948G>A (p.Ala3316=) rs782402913 0.00001
NM_001197104.2(KMT2A):c.10181G>A (p.Gly3394Glu)
NM_001197104.2(KMT2A):c.10417C>T (p.Arg3473Cys)
NM_001197104.2(KMT2A):c.10842C>T (p.Val3614=)
NM_001197104.2(KMT2A):c.10854G>A (p.Pro3618=)
NM_001197104.2(KMT2A):c.177T>G (p.Ala59=)
NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del) rs781936420
NM_001197104.2(KMT2A):c.188CGG[6] (p.Ala67dup) rs781936420
NM_001197104.2(KMT2A):c.1968A>G (p.Leu656=) rs2134265489
NM_001197104.2(KMT2A):c.2478A>G (p.Pro826=)
NM_001197104.2(KMT2A):c.2664A>G (p.Ser888=)
NM_001197104.2(KMT2A):c.3843T>C (p.Pro1281=) rs2134300585
NM_001197104.2(KMT2A):c.3942G>A (p.Pro1314=) rs1555039447
NM_001197104.2(KMT2A):c.412G>A (p.Gly138Arg)
NM_001197104.2(KMT2A):c.4677C>T (p.Cys1559=) rs1429425306
NM_001197104.2(KMT2A):c.4866C>T (p.Tyr1622=)
NM_001197104.2(KMT2A):c.5493A>G (p.Lys1831=)
NM_001197104.2(KMT2A):c.7070C>G (p.Pro2357Arg) rs9332838
NM_001197104.2(KMT2A):c.7561C>T (p.Arg2521Cys)
NM_001197104.2(KMT2A):c.7692C>T (p.Ala2564=)
NM_001197104.2(KMT2A):c.8096G>A (p.Arg2699Gln)
NM_001197104.2(KMT2A):c.8124G>A (p.Glu2708=) rs1024411683
NM_001197104.2(KMT2A):c.834C>G (p.Leu278=)
NM_001197104.2(KMT2A):c.9759T>C (p.Ser3253=)

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