ClinVar Miner

List of variants in gene KMT2D reported as likely benign for not specified

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Gene type:
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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_003482.4(KMT2D):c.8047-15C>T rs202244933 0.01140
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=) rs183688784 0.00124
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819 0.00085
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) rs149393179 0.00063
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=) rs200939188 0.00057
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.10824A>G (p.Gln3608=) rs189571290 0.00052
NM_003482.4(KMT2D):c.9547G>C (p.Ala3183Pro) rs200429063 0.00051
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) rs199798179 0.00048
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=) rs374418866 0.00036
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471 0.00034
NM_003482.4(KMT2D):c.5952C>A (p.Pro1984=) rs587783721 0.00030
NM_003482.4(KMT2D):c.7545C>T (p.Pro2515=) rs373469160 0.00029
NM_003482.4(KMT2D):c.13001C>T (p.Ala4334Val) rs183702050 0.00028
NM_003482.4(KMT2D):c.16249C>T (p.Leu5417=) rs200803613 0.00026
NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu) rs370492566 0.00026
NM_003482.4(KMT2D):c.4089C>T (p.Thr1363=) rs369601017 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_003482.4(KMT2D):c.8559G>A (p.Pro2853=) rs375344889 0.00026
NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=) rs373414243 0.00025
NM_003482.4(KMT2D):c.682C>G (p.Arg228Gly) rs201994402 0.00025
NM_003482.4(KMT2D):c.9729C>T (p.Ser3243=) rs369959158 0.00024
NM_003482.4(KMT2D):c.13524C>T (p.Asn4508=) rs199676066 0.00021
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) rs371444130 0.00016
NM_003482.4(KMT2D):c.2062C>T (p.Arg688Cys) rs371076182 0.00016
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=) rs370414767 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_003482.4(KMT2D):c.11916G>A (p.Gln3972=) rs371224852 0.00015
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=) rs200155807 0.00015
NM_003482.4(KMT2D):c.15558C>T (p.His5186=) rs2024 0.00013
NM_003482.4(KMT2D):c.4389C>T (p.Thr1463=) rs372775501 0.00013
NM_003482.4(KMT2D):c.8547C>T (p.Ala2849=) rs368381758 0.00013
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174 0.00011
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459 0.00011
NM_003482.4(KMT2D):c.8973C>T (p.Pro2991=) rs375466241 0.00011
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.2206C>T (p.Pro736Ser) rs552543556 0.00010
NM_003482.4(KMT2D):c.3027G>A (p.Val1009=) rs138227815 0.00010
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=) rs376227770 0.00007
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_003482.4(KMT2D):c.11957C>G (p.Ser3986Cys) rs768668663 0.00006
NM_003482.4(KMT2D):c.15200C>T (p.Thr5067Met) rs767962124 0.00006
NM_003482.4(KMT2D):c.2204G>T (p.Cys735Phe) rs772901550 0.00006
NM_003482.4(KMT2D):c.5921C>T (p.Thr1974Met) rs777415982 0.00006
NM_003482.4(KMT2D):c.7904G>A (p.Arg2635Gln) rs200359477 0.00006
NM_003482.4(KMT2D):c.13710C>T (p.Thr4570=) rs781047520 0.00005
NM_003482.4(KMT2D):c.15120C>T (p.Asp5040=) rs143955226 0.00005
NM_003482.4(KMT2D):c.1994C>T (p.Pro665Leu) rs780891095 0.00005
NM_003482.4(KMT2D):c.9135C>T (p.Asp3045=) rs781693014 0.00005
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=) rs567323882 0.00004
NM_003482.4(KMT2D):c.1296C>T (p.Ala432=) rs547058856 0.00004
NM_003482.4(KMT2D):c.13559C>T (p.Pro4520Leu) rs374531508 0.00004
NM_003482.4(KMT2D):c.13560G>A (p.Pro4520=) rs758268996 0.00004
NM_003482.4(KMT2D):c.5007C>T (p.Pro1669=) rs200225974 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003482.4(KMT2D):c.8211C>T (p.Thr2737=) rs370558457 0.00004
NM_003482.4(KMT2D):c.9034C>T (p.Leu3012=) rs752355105 0.00004
NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr) rs752428122 0.00004
NM_003482.4(KMT2D):c.10508-11T>G rs374068805 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.16197G>A (p.Val5399=) rs776542344 0.00003
NM_003482.4(KMT2D):c.2215G>A (p.Glu739Lys) rs587783706 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_003482.4(KMT2D):c.8904G>A (p.Pro2968=) rs767700267 0.00003
NM_003482.4(KMT2D):c.11342G>A (p.Ser3781Asn) rs368670448 0.00002
NM_003482.4(KMT2D):c.2785C>T (p.Leu929=) rs745396055 0.00002
NM_003482.4(KMT2D):c.1042C>T (p.Arg348Cys) rs746039927 0.00001
NM_003482.4(KMT2D):c.10482G>A (p.Pro3494=) rs777636844 0.00001
NM_003482.4(KMT2D):c.109C>T (p.His37Tyr) rs1243381790 0.00001
NM_003482.4(KMT2D):c.12610G>A (p.Val4204Ile) rs202126693 0.00001
NM_003482.4(KMT2D):c.14028G>T (p.Leu4676=) rs1464807705 0.00001
NM_003482.4(KMT2D):c.1447T>C (p.Leu483=) rs538588651 0.00001
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) rs761108868 0.00001
NM_003482.4(KMT2D):c.1759G>C (p.Glu587Gln) rs199980307 0.00001
NM_003482.4(KMT2D):c.4167G>A (p.Gly1389=) rs1237635545 0.00001
NM_003482.4(KMT2D):c.6349C>T (p.Pro2117Ser) rs758476128 0.00001
NM_003482.4(KMT2D):c.6441G>A (p.Ala2147=) rs763357891 0.00001
NM_003482.4(KMT2D):c.7841C>T (p.Ser2614Leu) rs376202668 0.00001
NM_003482.4(KMT2D):c.9491G>A (p.Arg3164Gln) rs587783730 0.00001
NM_003482.4(KMT2D):c.10355+12G>A rs886262865
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del) rs576788910
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.12366A>G (p.Gly4122=)
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=) rs905791071
NM_003482.4(KMT2D):c.13095T>C (p.Leu4365=) rs767751775
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.1638C>T (p.Ser546=)
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1]) rs398123736
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1]) rs587783707
NM_003482.4(KMT2D):c.288G>C (p.Val96=) rs587783710
NM_003482.4(KMT2D):c.3086A>G (p.Gln1029Arg)
NM_003482.4(KMT2D):c.401-11del rs745388553
NM_003482.4(KMT2D):c.4518C>A (p.Thr1506=) rs150988159
NM_003482.4(KMT2D):c.6020A>C (p.Glu2007Ala) rs587783722
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.4(KMT2D):c.8317T>C (p.Ser2773Pro) rs1001660551
NM_003482.4(KMT2D):c.9347C>T (p.Pro3116Leu) rs1249007323
NM_003482.4(KMT2D):c.9405C>G (p.Thr3135=) rs376141976

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