ClinVar Miner

List of variants studied for Pitt-Hopkins syndrome by National Institute of Neuroscience, National Center of Neurology and Psychiatry

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120

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