ClinVar Miner

List of variants studied for Pitt-Hopkins syndrome by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro) rs121909123
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.656-1G>C rs587784466
NM_001083962.2(TCF4):c.908del (p.Thr303fs) rs1600861681

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