ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu) rs200245957 0.00016
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys) rs766543419 0.00009
NM_003482.4(KMT2D):c.8006T>G (p.Met2669Arg) rs372520829 0.00009
NM_003482.4(KMT2D):c.15686G>A (p.Arg5229His) rs201628357 0.00006
NM_003482.4(KMT2D):c.1463C>T (p.Pro488Leu) rs763729848 0.00004
NM_003482.4(KMT2D):c.8507G>A (p.Arg2836His) rs886202729 0.00004
NM_003482.4(KMT2D):c.13627G>T (p.Asp4543Tyr) rs772023360 0.00003
NM_003482.4(KMT2D):c.13588G>A (p.Asp4530Asn) rs768143170 0.00002
NM_003482.4(KMT2D):c.10835A>G (p.Gln3612Arg) rs1264110495 0.00001
NM_003482.4(KMT2D):c.11671G>A (p.Ala3891Thr) rs886049476 0.00001
NM_003482.4(KMT2D):c.13118G>A (p.Gly4373Asp) rs770966197 0.00001
NM_003482.4(KMT2D):c.14803G>A (p.Glu4935Lys) rs1404087769 0.00001
NM_003482.4(KMT2D):c.299G>C (p.Gly100Ala) rs371058953 0.00001
NM_003482.4(KMT2D):c.5375T>C (p.Val1792Ala) rs757707458 0.00001
NM_003482.4(KMT2D):c.5524G>A (p.Asp1842Asn) rs1399516081 0.00001
NM_003482.4(KMT2D):c.5966C>T (p.Thr1989Met) rs754420100 0.00001
NM_003482.4(KMT2D):c.6225G>A (p.Lys2075=) rs753926557 0.00001
NM_003482.4(KMT2D):c.7018C>T (p.Pro2340Ser) rs1297761342 0.00001
NM_003482.4(KMT2D):c.7327C>T (p.Arg2443Cys) rs371053017 0.00001
NM_003482.4(KMT2D):c.10323G>C (p.Gln3441His)
NM_003482.4(KMT2D):c.10367C>G (p.Ser3456Cys)
NM_003482.4(KMT2D):c.10740+3G>A
NM_003482.4(KMT2D):c.11093G>A (p.Gly3698Asp)
NM_003482.4(KMT2D):c.11702AGC[4] (p.Gln3905del) rs944680171
NM_003482.4(KMT2D):c.11829GCA[2] (p.Gln3947del) rs1027832047
NM_003482.4(KMT2D):c.11829GCA[4] (p.Gln3947dup) rs1027832047
NM_003482.4(KMT2D):c.11843_11860del (p.Leu3948_Gln3953del) rs762810380
NM_003482.4(KMT2D):c.11844_11864del (p.3948LQQQQQQ[1])
NM_003482.4(KMT2D):c.12055C>T (p.Leu4019Phe)
NM_003482.4(KMT2D):c.12205C>A (p.Leu4069Ile)
NM_003482.4(KMT2D):c.12321G>A (p.Leu4107=)
NM_003482.4(KMT2D):c.12573G>A (p.Met4191Ile)
NM_003482.4(KMT2D):c.1259-3C>T rs1237256636
NM_003482.4(KMT2D):c.13654CTGAAACAG[1] (p.4552LKQ[1]) rs767962797
NM_003482.4(KMT2D):c.13685T>C (p.Leu4562Pro) rs1555187179
NM_003482.4(KMT2D):c.13764G>C (p.Gln4588His)
NM_003482.4(KMT2D):c.13804A>G (p.Thr4602Ala) rs1187814622
NM_003482.4(KMT2D):c.14002A>T (p.Thr4668Ser) rs946513897
NM_003482.4(KMT2D):c.15670C>T (p.Arg5224Cys)
NM_003482.4(KMT2D):c.15784+5G>C rs1942575160
NM_003482.4(KMT2D):c.2088_2141del (p.Pro697_Ser714del)
NM_003482.4(KMT2D):c.2117C>T (p.Pro706Leu)
NM_003482.4(KMT2D):c.2129C>A (p.Pro710Gln)
NM_003482.4(KMT2D):c.4379C>G (p.Pro1460Arg) rs1262943788
NM_003482.4(KMT2D):c.4840C>T (p.Arg1614Trp) rs375118713
NM_003482.4(KMT2D):c.5392A>G (p.Ser1798Gly)
NM_003482.4(KMT2D):c.5489C>T (p.Ala1830Val)
NM_003482.4(KMT2D):c.5570C>A (p.Pro1857His) rs1943617730
NM_003482.4(KMT2D):c.5663C>T (p.Ser1888Phe)
NM_003482.4(KMT2D):c.632A>G (p.Gln211Arg)
NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln)
NM_003482.4(KMT2D):c.8365C>T (p.Arg2789Trp)
NM_003482.4(KMT2D):c.8521C>A (p.Pro2841Thr) rs763347763
NM_003482.4(KMT2D):c.8564C>T (p.Ala2855Val)
NM_003482.4(KMT2D):c.8615C>T (p.Ala2872Val)
NM_003482.4(KMT2D):c.9265G>A (p.Val3089Met)
NM_003482.4(KMT2D):c.9287C>T (p.Pro3096Leu)
NM_003482.4(KMT2D):c.9566G>T (p.Gly3189Val)
NM_003482.4(KMT2D):c.9728G>C (p.Ser3243Thr)

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