ClinVar Miner

List of variants reported for Wiedemann-Steiner syndrome by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.1844del (p.Pro615fs) rs1591374984
NM_001197104.2(KMT2A):c.3157-7_3161del rs1591379711
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter)

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