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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001197104.2(KMT2A):c.11785A>C (p.Ile3929Leu)	rs1591312430
NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp)	rs2134287568
NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg)	rs1131691433
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del)	rs1591393351
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter)	rs1555043796

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