ClinVar Miner

List of variants in gene KMT2A reported as likely benign for Inborn genetic diseases

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.10475C>T (p.Ala3492Val) rs145249825 0.00076
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) rs139227835 0.00065
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.6185C>T (p.Thr2062Ile) rs145061625 0.00028
NM_001197104.2(KMT2A):c.7228A>G (p.Met2410Val) rs543733077 0.00027
NM_001197104.2(KMT2A):c.3634+4G>A rs367948360 0.00024
NM_001197104.2(KMT2A):c.10832C>T (p.Ala3611Val) rs150112908 0.00014
NM_001197104.2(KMT2A):c.7787T>C (p.Val2596Ala) rs781809969 0.00013
NM_001197104.2(KMT2A):c.3700G>A (p.Val1234Met) rs374632181 0.00012
NM_001197104.2(KMT2A):c.10591C>G (p.Pro3531Ala) rs199656572 0.00011
NM_001197104.2(KMT2A):c.3722G>C (p.Ser1241Thr) rs142658261 0.00011
NM_001197104.2(KMT2A):c.10803G>C (p.Gln3601His) rs528682281 0.00010
NM_001197104.2(KMT2A):c.743A>G (p.Asn248Ser) rs147272445 0.00010
NM_001197104.2(KMT2A):c.260C>T (p.Ser87Leu) rs868991793 0.00009
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.6646A>G (p.Met2216Val) rs527501404 0.00008
NM_001197104.2(KMT2A):c.7307G>A (p.Cys2436Tyr) rs145028869 0.00006
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.7804A>G (p.Met2602Val) rs781830267 0.00005
NM_001197104.2(KMT2A):c.9514A>G (p.Thr3172Ala) rs782359762 0.00005
NM_001197104.2(KMT2A):c.3799G>A (p.Val1267Ile) rs376303494 0.00004
NM_001197104.2(KMT2A):c.7004C>T (p.Ala2335Val) rs188435877 0.00004
NM_001197104.2(KMT2A):c.10441C>A (p.Pro3481Thr) rs782107354 0.00003
NM_001197104.2(KMT2A):c.1508G>A (p.Arg503Gln) rs782313746 0.00003
NM_001197104.2(KMT2A):c.3830C>T (p.Ser1277Leu) rs782070742 0.00003
NM_001197104.2(KMT2A):c.7561C>T (p.Arg2521Cys) rs540886080 0.00003
NM_001197104.2(KMT2A):c.9846C>G (p.His3282Gln) rs782702303 0.00003
NM_001197104.2(KMT2A):c.10798G>A (p.Glu3600Lys) rs782210632 0.00002
NM_001197104.2(KMT2A):c.2825G>A (p.Gly942Glu) rs144235455 0.00002
NM_001197104.2(KMT2A):c.3907C>G (p.Leu1303Val) rs782491835 0.00002
NM_001197104.2(KMT2A):c.5056C>T (p.Arg1686Cys) rs377724112 0.00002
NM_001197104.2(KMT2A):c.5527C>T (p.Pro1843Ser) rs782527592 0.00002
NM_001197104.2(KMT2A):c.5573G>A (p.Arg1858Gln) rs377588214 0.00002
NM_001197104.2(KMT2A):c.6650G>A (p.Arg2217Lys) rs782483583 0.00002
NM_001197104.2(KMT2A):c.6793A>C (p.Thr2265Pro) rs782707495 0.00002
NM_001197104.2(KMT2A):c.7453G>C (p.Val2485Leu) rs781819293 0.00002
NM_001197104.2(KMT2A):c.7772A>C (p.Tyr2591Ser) rs374420996 0.00002
NM_001197104.2(KMT2A):c.7955G>T (p.Ser2652Ile) rs782497028 0.00002
NM_001197104.2(KMT2A):c.10007G>A (p.Gly3336Asp) rs781896383 0.00001
NM_001197104.2(KMT2A):c.10039G>A (p.Val3347Ile) rs781850448 0.00001
NM_001197104.2(KMT2A):c.10130A>G (p.Asp3377Gly) rs782811050 0.00001
NM_001197104.2(KMT2A):c.10351G>A (p.Glu3451Lys) rs139366882 0.00001
NM_001197104.2(KMT2A):c.11002C>A (p.Pro3668Thr) rs1479477078 0.00001
NM_001197104.2(KMT2A):c.1961C>T (p.Pro654Leu) rs782450420 0.00001
NM_001197104.2(KMT2A):c.2056A>G (p.Thr686Ala) rs782026566 0.00001
NM_001197104.2(KMT2A):c.2702G>A (p.Ser901Asn) rs782818853 0.00001
NM_001197104.2(KMT2A):c.3763A>G (p.Lys1255Glu) rs782739484 0.00001
NM_001197104.2(KMT2A):c.3826G>A (p.Val1276Ile) rs781925449 0.00001
NM_001197104.2(KMT2A):c.554G>A (p.Arg185Gln) rs782442429 0.00001
NM_001197104.2(KMT2A):c.6737T>C (p.Val2246Ala) rs139450035 0.00001
NM_001197104.2(KMT2A):c.6906G>C (p.Lys2302Asn) rs782151492 0.00001
NM_001197104.2(KMT2A):c.7091C>G (p.Ser2364Cys) rs781911944 0.00001
NM_001197104.2(KMT2A):c.7145G>A (p.Arg2382Gln) rs782199472 0.00001
NM_001197104.2(KMT2A):c.7252A>G (p.Asn2418Asp) rs782542236 0.00001
NM_001197104.2(KMT2A):c.7319T>A (p.Phe2440Tyr) rs781927823 0.00001
NM_001197104.2(KMT2A):c.7505A>G (p.Lys2502Arg) rs150412512 0.00001
NM_001197104.2(KMT2A):c.7552C>T (p.Pro2518Ser) rs979762842 0.00001
NM_001197104.2(KMT2A):c.8432G>A (p.Arg2811His) rs782705469 0.00001
NM_001197104.2(KMT2A):c.8669G>A (p.Arg2890His) rs782765039 0.00001
NM_001197104.2(KMT2A):c.9751G>A (p.Val3251Met) rs782171210 0.00001
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln) rs147844226
NM_001197104.2(KMT2A):c.2012G>A (p.Gly671Asp)
NM_001197104.2(KMT2A):c.3791G>A (p.Arg1264Gln) rs782683534
NM_001197104.2(KMT2A):c.7220T>G (p.Leu2407Arg)
NM_001197104.2(KMT2A):c.8424G>C (p.Glu2808Asp)
NM_001197104.2(KMT2A):c.9331G>C (p.Val3111Leu) rs781929360
NM_001197104.2(KMT2A):c.9713C>A (p.Ala3238Asp) rs782631753
NM_001197104.2(KMT2A):c.9848G>T (p.Arg3283Leu) rs781886946

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