ClinVar Miner

List of variants in gene KMT2A reported as likely pathogenic for Wiedemann-Steiner syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.10745C>A (p.Ser3582Ter)
NM_001197104.2(KMT2A):c.10853del (p.Pro3618fs)
NM_001197104.2(KMT2A):c.10934dup (p.Ser3646fs) rs2134430935
NM_001197104.2(KMT2A):c.129del (p.Pro45fs) rs2134152803
NM_001197104.2(KMT2A):c.2214_2218dup (p.Val740fs) rs2134266780
NM_001197104.2(KMT2A):c.2354_2402dup (p.His801delinsGlnSerSerCysHisTer) rs1949980614
NM_001197104.2(KMT2A):c.2608A>T (p.Lys870Ter)
NM_001197104.2(KMT2A):c.293del (p.Ser97_Ser98insTer)
NM_001197104.2(KMT2A):c.2982_2988del (p.Ser995fs) rs2134272841
NM_001197104.2(KMT2A):c.3070dup (p.Ala1024fs)
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001197104.2(KMT2A):c.3463T>C (p.Cys1155Arg)
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.2(KMT2A):c.3537T>G (p.Phe1179Leu)
NM_001197104.2(KMT2A):c.3542G>A (p.Gly1181Asp)
NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp) rs2134287568
NM_001197104.2(KMT2A):c.3615C>A (p.Tyr1205Ter)
NM_001197104.2(KMT2A):c.3740_3741del (p.Ser1247fs) rs1565286640
NM_001197104.2(KMT2A):c.3853C>T (p.Gln1285Ter) rs2134300616
NM_001197104.2(KMT2A):c.3935_3936del (p.Thr1312fs) rs1591385068
NM_001197104.2(KMT2A):c.4086+1G>A rs863224889
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001197104.2(KMT2A):c.4301G>T (p.Cys1434Phe)
NM_001197104.2(KMT2A):c.4333-2A>G rs2134327570
NM_001197104.2(KMT2A):c.4342T>C (p.Cys1448Arg) rs863224895
NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg) rs1131691433
NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter)
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del) rs1591393351
NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg) rs2134335014
NM_001197104.2(KMT2A):c.4760A>G (p.Gln1587Arg)
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter) rs1591266263
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001197104.2(KMT2A):c.5494C>A (p.Pro1832Thr) rs797045051
NM_001197104.2(KMT2A):c.5828G>A (p.Gly1943Glu) rs1950444447
NM_001197104.2(KMT2A):c.5901del (p.Cys1967fs) rs2134367400
NM_001197104.2(KMT2A):c.6079+2T>C
NM_001197104.2(KMT2A):c.6080G>A (p.Gly2027Glu) rs1057519403
NM_001197104.2(KMT2A):c.6141_6142dup (p.Phe2048fs)
NM_001197104.2(KMT2A):c.6158+1del
NM_001197104.2(KMT2A):c.6158+6T>C rs1555045177
NM_001197104.2(KMT2A):c.6320-1G>A
NM_001197104.2(KMT2A):c.6357del (p.Ile2119_Ile2120insTer) rs2134381253
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) rs781843315
NM_001197104.2(KMT2A):c.658_662del (p.Lys220fs) rs2134257719
NM_001197104.2(KMT2A):c.69del (p.Arg24fs) rs2134152310
NM_001197104.2(KMT2A):c.7248del (p.Ile2417fs)
NM_001197104.2(KMT2A):c.7941_7942del (p.Ile2648fs)
NM_001197104.2(KMT2A):c.8183_8186del (p.Glu2728fs) rs1591283017
NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro) rs1555047266
NM_001197104.2(KMT2A):c.883_886del (p.Lys295fs) rs1949951871
NM_001197104.2(KMT2A):c.8992A>T (p.Ile2998Phe)
NM_001197104.2(KMT2A):c.9035del (p.Cys3012fs) rs2134402509
NM_001197104.2(KMT2A):c.9275_9276del (p.Tyr3092fs) rs2134404192
NM_001197104.2(KMT2A):c.9684del (p.Leu3229fs)

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