ClinVar Miner

List of variants studied for Pitt-Hopkins syndrome by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1067C>A (p.Ser356Ter) rs1600504872
NM_001083962.2(TCF4):c.1136dup (p.Leu379fs) rs1057519592
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122

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