ClinVar Miner

List of variants reported as pathogenic for Pitt-Hopkins syndrome by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001083962.2(TCF4):c.1249del (p.Asp417fs)	rs2145500473
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val)	rs1568303352
NM_001083962.2(TCF4):c.879del (p.Ser294fs)	rs2512489651

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