ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_001197104.1(KMT2A):c.10334dup (p.Ser3446fs) rs863224888
NM_001197104.1(KMT2A):c.1038del (p.Val347fs) rs1555035779
NM_001197104.1(KMT2A):c.11031del (p.Ser3678fs) rs1565310297
NM_001197104.1(KMT2A):c.11071+1G>A rs1555049702
NM_001197104.1(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.1(KMT2A):c.2671_2672GA[1] (p.Arg893fs) rs587783676
NM_001197104.1(KMT2A):c.2896A>T (p.Arg966Ter) rs1555036801
NM_001197104.1(KMT2A):c.3334+1G>A rs1135401764
NM_001197104.1(KMT2A):c.3341C>A (p.Ser1114Ter) rs1555038029
NM_001197104.1(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_001197104.1(KMT2A):c.3521T>G (p.Leu1174Ter) rs1555038111
NM_001197104.1(KMT2A):c.3566G>A (p.Cys1189Tyr) rs1555038125
NM_001197104.1(KMT2A):c.3651dup (p.Lys1218fs) rs863224887
NM_001197104.1(KMT2A):c.458C>G (p.Ser153Ter) rs587783678
NM_001197104.1(KMT2A):c.4599dup (p.Lys1534Ter) rs398122881
NM_001197104.1(KMT2A):c.4696+1G>A rs1057519407
NM_001197104.1(KMT2A):c.6002_6005del (p.Phe2001fs) rs1057519408
NM_001197104.1(KMT2A):c.602_603insT (p.Lys201fs) rs1555035550
NM_001197104.1(KMT2A):c.6811del (p.Arg2271fs) rs797045656
NM_001197104.1(KMT2A):c.6913del (p.Ser2305fs) rs398122880
NM_001197104.1(KMT2A):c.7144C>T (p.Arg2382Ter) rs387907275
NM_001197104.1(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_001197104.1(KMT2A):c.7831G>T (p.Glu2611Ter) rs587783679
NM_001197104.1(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001197104.1(KMT2A):c.8149del (p.Ile2717fs) rs1131692268
NM_001197104.1(KMT2A):c.8267del (p.Asn2755_Leu2756insTer) rs398122879
NM_001197104.1(KMT2A):c.8270dup (p.Ile2758fs) rs1565304395
NM_001197104.1(KMT2A):c.8802_8805GTCT[1] (p.Ser2935_Val2936insTer) rs398122878

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