ClinVar Miner

List of variants reported for Wiedemann-Steiner syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.1082T>C (p.Ile361Thr)
NM_001197104.2(KMT2A):c.11073dup (p.Ala3692fs)
NM_001197104.2(KMT2A):c.1610G>C (p.Ser537Thr)
NM_001197104.2(KMT2A):c.209G>A (p.Ser70Asn) rs1177309170
NM_001197104.2(KMT2A):c.2326G>C (p.Val776Leu)
NM_001197104.2(KMT2A):c.2429_2430insG (p.Glu811fs)
NM_001197104.2(KMT2A):c.3283G>A (p.Ala1095Thr)
NM_001197104.2(KMT2A):c.3341C>A (p.Ser1114Ter) rs1555038029
NM_001197104.2(KMT2A):c.4301G>T (p.Cys1434Phe)
NM_001197104.2(KMT2A):c.4915C>A (p.Leu1639Ile)
NM_001197104.2(KMT2A):c.5005-3T>C
NM_001197104.2(KMT2A):c.526C>T (p.Arg176Cys)
NM_001197104.2(KMT2A):c.5656_5657del (p.Ser1886fs)
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) rs781843315
NM_001197104.2(KMT2A):c.6709A>G (p.Thr2237Ala) rs1950517622
NM_001197104.2(KMT2A):c.7753del (p.Asp2585fs)
NM_001197104.2(KMT2A):c.9195del (p.Ala3066fs)
NM_001197104.2(KMT2A):c.9911T>G (p.Leu3304Arg)

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