List of variants reported as likely pathogenic for Pitt-Hopkins syndrome by ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001083962.2(TCF4):c.1086G>A (p.Trp362Ter)	rs398123560
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys)	rs1599570613
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe)	rs587784460
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys)	rs2047109965
NM_001083962.2(TCF4):c.1774G>A (p.Gly592Ser)	rs751190049
NM_001083962.2(TCF4):c.1826T>C (p.Leu609Pro)	rs1057524821
NM_001083962.2(TCF4):c.1916_1917del (p.Arg639fs)	rs1555708227
NM_001083962.2(TCF4):c.2010_2011del (p.Gln670fs)	rs796053429
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg)	rs1555796785

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