List of variants reported as likely pathogenic for Pitt-Hopkins syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001083962.2(TCF4):c.1066_1067dup (p.Ala357fs)	rs1555775233
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer)	rs1555764839
NM_001083962.2(TCF4):c.1512_1513insTAGTCCAG (p.Ser505Ter)	rs1555718354
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter)	rs1131691735

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