List of variants studied for Pitt-Hopkins syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001243226.3(TCF4):c.86T>C (p.Met29Thr)	rs748774594	0.00002
NM_001083962.2(TCF4):c.1454_1455del (p.Pro485fs)	rs2144676461
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)	rs121909120
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys)	rs2047109965
NM_001083962.2(TCF4):c.808T>A (p.Ser270Thr)	rs2059992286

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