ClinVar Miner

List of variants in gene KMT2A studied for Inborn genetic diseases

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Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.6698C>T (p.Thr2233Ile) rs144271443 0.00206
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro) rs142985138 0.00059
NM_001197104.2(KMT2A):c.7983G>C (p.Lys2661Asn) rs142807735 0.00036
NM_001197104.2(KMT2A):c.7228A>G (p.Met2410Val) rs543733077 0.00027
NM_001197104.2(KMT2A):c.10591C>G (p.Pro3531Ala) rs199656572 0.00026
NM_001197104.2(KMT2A):c.3634+4G>A rs367948360 0.00024
NM_001197104.2(KMT2A):c.10832C>T (p.Ala3611Val) rs150112908 0.00016
NM_001197104.2(KMT2A):c.10803G>C (p.Gln3601His) rs528682281 0.00014
NM_001197104.2(KMT2A):c.7787T>C (p.Val2596Ala) rs781809969 0.00013
NM_001197104.2(KMT2A):c.7054G>A (p.Gly2352Ser) rs201869352 0.00009
NM_001197104.2(KMT2A):c.10297C>A (p.Pro3433Thr) rs143780031 0.00008
NM_001197104.2(KMT2A):c.10609A>G (p.Thr3537Ala) rs782816466 0.00005
NM_001197104.2(KMT2A):c.2317C>G (p.Pro773Ala) rs199922480 0.00005
NM_001197104.2(KMT2A):c.2401C>T (p.His801Tyr) rs375240261 0.00005
NM_001197104.2(KMT2A):c.6700G>A (p.Gly2234Arg) rs782272214 0.00005
NM_001197104.2(KMT2A):c.9514A>G (p.Thr3172Ala) rs782359762 0.00005
NM_001197104.2(KMT2A):c.10441C>A (p.Pro3481Thr) rs782107354 0.00004
NM_001197104.2(KMT2A):c.7147G>A (p.Asp2383Asn) rs376579850 0.00004
NM_001197104.2(KMT2A):c.3830C>T (p.Ser1277Leu) rs782070742 0.00003
NM_001197104.2(KMT2A):c.2426C>T (p.Ser809Phe) rs374005016 0.00002
NM_001197104.2(KMT2A):c.2825G>A (p.Gly942Glu) rs144235455 0.00002
NM_001197104.2(KMT2A):c.5056C>T (p.Arg1686Cys) rs377724112 0.00002
NM_001197104.2(KMT2A):c.5573G>A (p.Arg1858Gln) rs377588214 0.00002
NM_001197104.2(KMT2A):c.7772A>C (p.Tyr2591Ser) rs374420996 0.00002
NM_001197104.2(KMT2A):c.1961C>T (p.Pro654Leu) rs782450420 0.00001
NM_001197104.2(KMT2A):c.5256A>C (p.Lys1752Asn) rs1555043352 0.00001
NM_001197104.2(KMT2A):c.680C>A (p.Thr227Asn) rs1385508131 0.00001
NM_001197104.2(KMT2A):c.8432G>A (p.Arg2811His) rs782705469 0.00001
NM_001197104.2(KMT2A):c.10007G>A (p.Gly3336Asp)
NM_001197104.2(KMT2A):c.1001A>C (p.Lys334Thr)
NM_001197104.2(KMT2A):c.10045A>G (p.Met3349Val) rs1950574083
NM_001197104.2(KMT2A):c.10130A>G (p.Asp3377Gly)
NM_001197104.2(KMT2A):c.10574G>A (p.Gly3525Glu)
NM_001197104.2(KMT2A):c.10718C>T (p.Pro3573Leu)
NM_001197104.2(KMT2A):c.10754+1G>A
NM_001197104.2(KMT2A):c.11002C>A (p.Pro3668Thr)
NM_001197104.2(KMT2A):c.1144G>A (p.Gly382Arg)
NM_001197104.2(KMT2A):c.1337C>T (p.Thr446Ile)
NM_001197104.2(KMT2A):c.1340C>T (p.Pro447Leu)
NM_001197104.2(KMT2A):c.134del (p.Pro45fs) rs1555138529
NM_001197104.2(KMT2A):c.140G>A (p.Gly47Asp)
NM_001197104.2(KMT2A):c.1522G>T (p.Glu508Ter) rs781978013
NM_001197104.2(KMT2A):c.154G>C (p.Gly52Arg)
NM_001197104.2(KMT2A):c.1589G>T (p.Arg530Met)
NM_001197104.2(KMT2A):c.1607G>C (p.Arg536Thr)
NM_001197104.2(KMT2A):c.160C>G (p.Pro54Ala)
NM_001197104.2(KMT2A):c.166_167insA (p.Ser56fs) rs1949187852
NM_001197104.2(KMT2A):c.172C>A (p.Pro58Thr)
NM_001197104.2(KMT2A):c.173del (p.Pro58fs) rs1555138552
NM_001197104.2(KMT2A):c.1868del (p.Lys623fs) rs797044937
NM_001197104.2(KMT2A):c.2029C>G (p.Arg677Gly)
NM_001197104.2(KMT2A):c.208A>G (p.Ser70Gly)
NM_001197104.2(KMT2A):c.2193del (p.Ser732fs) rs1555036394
NM_001197104.2(KMT2A):c.2262del (p.Ser754_Met755insTer) rs1555036436
NM_001197104.2(KMT2A):c.2318del (p.Pro773fs) rs782297546
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.2394T>G (p.Phe798Leu) rs1949981074
NM_001197104.2(KMT2A):c.2584C>G (p.Arg862Gly)
NM_001197104.2(KMT2A):c.2702G>A (p.Ser901Asn)
NM_001197104.2(KMT2A):c.27C>A (p.Phe9Leu)
NM_001197104.2(KMT2A):c.308del (p.Pro103fs) rs1949193924
NM_001197104.2(KMT2A):c.3157G>A (p.Gly1053Ser) rs145549283
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3373_3374del (p.Leu1125fs) rs1950069134
NM_001197104.2(KMT2A):c.3376G>A (p.Ala1126Thr)
NM_001197104.2(KMT2A):c.3436G>T (p.Val1146Leu)
NM_001197104.2(KMT2A):c.3437T>C (p.Val1146Ala)
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter) rs868985556
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3539G>A (p.Gly1180Asp)
NM_001197104.2(KMT2A):c.3539G>T (p.Gly1180Val) rs1555038115
NM_001197104.2(KMT2A):c.3570-2A>G rs1950106219
NM_001197104.2(KMT2A):c.3651_3652del (p.Lys1219fs) rs1555039242
NM_001197104.2(KMT2A):c.3700G>A (p.Val1234Met)
NM_001197104.2(KMT2A):c.3704A>C (p.Lys1235Thr)
NM_001197104.2(KMT2A):c.3724C>T (p.Gln1242Ter) rs1950137753
NM_001197104.2(KMT2A):c.3730C>A (p.Pro1244Thr)
NM_001197104.2(KMT2A):c.3763A>G (p.Lys1255Glu)
NM_001197104.2(KMT2A):c.3770G>T (p.Ser1257Ile) rs988213215
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.3889C>T (p.Gln1297Ter)
NM_001197104.2(KMT2A):c.397T>G (p.Phe133Val)
NM_001197104.2(KMT2A):c.4029del (p.Lys1343fs) rs1555039606
NM_001197104.2(KMT2A):c.404A>G (p.Glu135Gly)
NM_001197104.2(KMT2A):c.4086G>A (p.Lys1362=) rs1950151911
NM_001197104.2(KMT2A):c.4310G>T (p.Cys1437Phe) rs1950203796
NM_001197104.2(KMT2A):c.4331_4332dup (p.Phe1445fs) rs1555040480
NM_001197104.2(KMT2A):c.4504C>T (p.Arg1502Ter) rs150800017
NM_001197104.2(KMT2A):c.4807T>C (p.Ser1603Pro)
NM_001197104.2(KMT2A):c.518G>A (p.Arg173Gln) rs1949944579
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter) rs886041896
NM_001197104.2(KMT2A):c.5335T>C (p.Phe1779Leu) rs1950377167
NM_001197104.2(KMT2A):c.5527C>T (p.Pro1843Ser)
NM_001197104.2(KMT2A):c.5656del (p.Ser1886fs) rs1950408951
NM_001197104.2(KMT2A):c.5665-2A>G
NM_001197104.2(KMT2A):c.6374C>G (p.Pro2125Arg)
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter) rs1555045816
NM_001197104.2(KMT2A):c.6504del (p.Gly2169fs)
NM_001197104.2(KMT2A):c.6646A>G (p.Met2216Val)
NM_001197104.2(KMT2A):c.6793A>C (p.Thr2265Pro)
NM_001197104.2(KMT2A):c.6922G>A (p.Gly2308Arg)
NM_001197104.2(KMT2A):c.7097A>C (p.Glu2366Ala) rs1555046355
NM_001197104.2(KMT2A):c.7145G>A (p.Arg2382Gln)
NM_001197104.2(KMT2A):c.7150C>T (p.Gln2384Ter) rs1555046404
NM_001197104.2(KMT2A):c.7187_7191dup (p.Glu2398fs) rs1555046428
NM_001197104.2(KMT2A):c.7319T>A (p.Phe2440Tyr)
NM_001197104.2(KMT2A):c.7337G>A (p.Ser2446Asn)
NM_001197104.2(KMT2A):c.743A>G (p.Asn248Ser)
NM_001197104.2(KMT2A):c.7453G>C (p.Val2485Leu)
NM_001197104.2(KMT2A):c.7497del (p.Val2500fs) rs1555046615
NM_001197104.2(KMT2A):c.7561C>T (p.Arg2521Cys)
NM_001197104.2(KMT2A):c.766del (p.Ile256fs) rs1565278132
NM_001197104.2(KMT2A):c.8046A>T (p.Leu2682Phe)
NM_001197104.2(KMT2A):c.8096G>A (p.Arg2699Gln)
NM_001197104.2(KMT2A):c.835_838del (p.Ser279fs) rs1949950865
NM_001197104.2(KMT2A):c.8407C>T (p.Gln2803Ter)
NM_001197104.2(KMT2A):c.8570T>G (p.Leu2857Arg)
NM_001197104.2(KMT2A):c.8669G>A (p.Arg2890His)
NM_001197104.2(KMT2A):c.8878G>C (p.Glu2960Gln)
NM_001197104.2(KMT2A):c.9083A>C (p.Asn3028Thr)
NM_001197104.2(KMT2A):c.9112_9115del (p.Val3038fs) rs1555047506
NM_001197104.2(KMT2A):c.9331G>C (p.Val3111Leu)
NM_001197104.2(KMT2A):c.9539T>G (p.Ile3180Ser)
NM_001197104.2(KMT2A):c.9695G>A (p.Arg3232Gln)
NM_001197104.2(KMT2A):c.9848G>T (p.Arg3283Leu)
NM_001197104.2(KMT2A):c.9929G>A (p.Gly3310Glu)

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