ClinVar Miner

List of variants in gene KMT2B reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_014727.3(KMT2B):c.1096G>A (p.Glu366Lys) rs186777199 0.00442
NM_014727.3(KMT2B):c.515C>T (p.Thr172Ile) rs60207923 0.00139
NM_014727.3(KMT2B):c.3379C>G (p.Pro1127Ala) rs61746997 0.00134
NM_014727.3(KMT2B):c.2871C>T (p.His957=) rs200235630 0.00056
NM_014727.3(KMT2B):c.1043A>C (p.Gln348Pro) rs182258483 0.00051
NM_014727.3(KMT2B):c.221G>A (p.Arg74His) rs769345523 0.00051
NM_014727.3(KMT2B):c.6680C>T (p.Thr2227Met) rs200908859 0.00049
NM_014727.3(KMT2B):c.3317G>A (p.Arg1106Gln) rs201094135 0.00041
NM_014727.3(KMT2B):c.1157T>C (p.Val386Ala) rs374075740 0.00039
NM_014727.3(KMT2B):c.5501G>A (p.Arg1834His) rs200461439 0.00038
NM_014727.3(KMT2B):c.2489C>A (p.Ala830Asp) rs201691099 0.00037
NM_014727.3(KMT2B):c.5888C>T (p.Pro1963Leu) rs146177906 0.00036
NM_014727.3(KMT2B):c.398C>T (p.Ala133Val) rs202048028 0.00021
NM_014727.3(KMT2B):c.1375C>T (p.Pro459Ser) rs574808075 0.00018
NM_014727.3(KMT2B):c.6201C>T (p.Gly2067=) rs191770935 0.00018
NM_014727.3(KMT2B):c.5728C>G (p.Pro1910Ala) rs377408813 0.00015
NM_014727.3(KMT2B):c.5981C>T (p.Ala1994Val) rs546000224 0.00014
NM_014727.3(KMT2B):c.6628C>T (p.Pro2210Ser) rs373926591 0.00013
NM_014727.3(KMT2B):c.6944G>A (p.Gly2315Glu) rs749380479 0.00010
NM_014727.3(KMT2B):c.6760C>A (p.Pro2254Thr) rs763536557 0.00009
NM_014727.3(KMT2B):c.620G>A (p.Arg207Gln) rs369788045 0.00006
NM_014727.3(KMT2B):c.5504A>T (p.His1835Leu) rs199510721 0.00004
NM_014727.3(KMT2B):c.6859C>T (p.Arg2287Trp) rs769817425 0.00003
NM_014727.3(KMT2B):c.7506G>A (p.Pro2502=) rs375273504 0.00002
NM_014727.3(KMT2B):c.971A>G (p.Glu324Gly) rs753110732 0.00002
NM_014727.3(KMT2B):c.1080G>T (p.Lys360Asn)
NM_014727.3(KMT2B):c.1181C>T (p.Ala394Val)
NM_014727.3(KMT2B):c.1211C>T (p.Pro404Leu)
NM_014727.3(KMT2B):c.1269TCC[1] (p.Pro427del)
NM_014727.3(KMT2B):c.1303C>G (p.Pro435Ala)
NM_014727.3(KMT2B):c.1345G>T (p.Ala449Ser)
NM_014727.3(KMT2B):c.1537G>A (p.Val513Met)
NM_014727.3(KMT2B):c.1786C>T (p.Leu596Phe)
NM_014727.3(KMT2B):c.2053G>A (p.Asp685Asn)
NM_014727.3(KMT2B):c.2164C>T (p.His722Tyr)
NM_014727.3(KMT2B):c.2183G>A (p.Ser728Asn)
NM_014727.3(KMT2B):c.2233C>G (p.Gln745Glu)
NM_014727.3(KMT2B):c.2288C>A (p.Pro763Gln)
NM_014727.3(KMT2B):c.2333C>T (p.Ala778Val)
NM_014727.3(KMT2B):c.2338G>T (p.Val780Leu)
NM_014727.3(KMT2B):c.2464C>T (p.Pro822Ser)
NM_014727.3(KMT2B):c.2509T>C (p.Ser837Pro)
NM_014727.3(KMT2B):c.2702G>T (p.Arg901Leu)
NM_014727.3(KMT2B):c.2736G>A (p.Ala912=)
NM_014727.3(KMT2B):c.3140G>A (p.Arg1047Gln)
NM_014727.3(KMT2B):c.3413G>A (p.Arg1138Gln)
NM_014727.3(KMT2B):c.4171G>A (p.Gly1391Arg)
NM_014727.3(KMT2B):c.4175C>T (p.Pro1392Leu)
NM_014727.3(KMT2B):c.4190C>T (p.Ala1397Val)
NM_014727.3(KMT2B):c.4313A>T (p.Asp1438Val)
NM_014727.3(KMT2B):c.4368C>T (p.Phe1456=) rs201875104
NM_014727.3(KMT2B):c.4496A>G (p.Lys1499Arg)
NM_014727.3(KMT2B):c.4516G>A (p.Gly1506Ser)
NM_014727.3(KMT2B):c.4562G>A (p.Arg1521Gln)
NM_014727.3(KMT2B):c.4572C>T (p.Asn1524=)
NM_014727.3(KMT2B):c.4706C>T (p.Pro1569Leu)
NM_014727.3(KMT2B):c.473C>T (p.Thr158Met)
NM_014727.3(KMT2B):c.5065C>G (p.Leu1689Val)
NM_014727.3(KMT2B):c.520C>G (p.Pro174Ala)
NM_014727.3(KMT2B):c.536G>A (p.Arg179Gln)
NM_014727.3(KMT2B):c.5560C>T (p.Pro1854Ser)
NM_014727.3(KMT2B):c.5734C>T (p.Arg1912Cys)
NM_014727.3(KMT2B):c.5735G>A (p.Arg1912His)
NM_014727.3(KMT2B):c.5792C>A (p.Pro1931His) rs201672736
NM_014727.3(KMT2B):c.5792C>T (p.Pro1931Leu) rs201672736
NM_014727.3(KMT2B):c.586C>T (p.Leu196Phe)
NM_014727.3(KMT2B):c.593G>A (p.Arg198Gln)
NM_014727.3(KMT2B):c.598G>A (p.Ala200Thr)
NM_014727.3(KMT2B):c.6097C>T (p.Arg2033Cys)
NM_014727.3(KMT2B):c.6130G>A (p.Ala2044Thr)
NM_014727.3(KMT2B):c.6262C>T (p.Pro2088Ser)
NM_014727.3(KMT2B):c.6284T>C (p.Val2095Ala)
NM_014727.3(KMT2B):c.6443C>G (p.Pro2148Arg)
NM_014727.3(KMT2B):c.647C>A (p.Pro216His) rs200386275
NM_014727.3(KMT2B):c.647C>G (p.Pro216Arg) rs200386275
NM_014727.3(KMT2B):c.6520G>A (p.Val2174Met)
NM_014727.3(KMT2B):c.653G>A (p.Arg218Gln)
NM_014727.3(KMT2B):c.6559G>A (p.Ala2187Thr)
NM_014727.3(KMT2B):c.6724G>A (p.Val2242Met)
NM_014727.3(KMT2B):c.6739G>A (p.Gly2247Arg)
NM_014727.3(KMT2B):c.6781A>C (p.Thr2261Pro)
NM_014727.3(KMT2B):c.6782C>A (p.Thr2261Lys)
NM_014727.3(KMT2B):c.6812C>T (p.Pro2271Leu)
NM_014727.3(KMT2B):c.6814C>T (p.Pro2272Ser)
NM_014727.3(KMT2B):c.6889G>A (p.Ala2297Thr)
NM_014727.3(KMT2B):c.7016G>A (p.Arg2339Gln)
NM_014727.3(KMT2B):c.7052C>T (p.Pro2351Leu)
NM_014727.3(KMT2B):c.7085C>T (p.Pro2362Leu)
NM_014727.3(KMT2B):c.859CGTGGAGGC[1] (p.289GRG[1])
NM_014727.3(KMT2B):c.883C>T (p.Arg295Cys)
NM_014727.3(KMT2B):c.976GGTCAA[2] (p.326GQ[2]) rs756646242

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