ClinVar Miner

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

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Total variants: 11
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NM_001197104.1(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.1(KMT2A):c.3740_3741del (p.Ser1247fs) rs1565286640
NM_001197104.1(KMT2A):c.4086+1G>A rs863224889
NM_001197104.1(KMT2A):c.4342T>C (p.Cys1448Arg) rs863224895
NM_001197104.1(KMT2A):c.5494C>A (p.Pro1832Thr) rs797045051
NM_001197104.1(KMT2A):c.6080G>A (p.Gly2027Glu) rs1057519403
NM_001197104.1(KMT2A):c.6158+6T>C rs1555045177
NM_001197104.1(KMT2A):c.8543T>C (p.Leu2848Pro) rs1555047266
NM_005933.4(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074

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