ClinVar Miner

List of variants studied for Pitt-Hopkins syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1144_1145insC (p.Leu382fs)
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.840_841insGAGAAAG (p.Ser281fs)
NM_001083962.2(TCF4):c.922+3G>T rs2145955178

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