List of variants reported as pathogenic for Wiedemann-Steiner syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter)	rs782477344
NM_001197104.2(KMT2A):c.2673_2674del (p.Arg893fs)	rs587783676
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter)	rs587783678
NM_001197104.2(KMT2A):c.6811del (p.Arg2271fs)	rs797045656
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter)	rs587783679
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)	rs587783680

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