List of variants reported as benign for Pitt-Hopkins syndrome by ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser)	rs143244149	0.00064
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)	rs147445499	0.00064
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys)	rs139876825	0.00043
NM_001083962.2(TCF4):c.504A>G (p.Val168=)	rs370160994	0.00036
NM_001083962.2(TCF4):c.790-9T>C	rs373434281	0.00029
NM_001083962.2(TCF4):c.1487-5G>A	rs749176054	0.00015
NM_001083962.2(TCF4):c.1990G>A (p.Ala664Thr)	rs755332116	0.00003
NM_001083962.2(TCF4):c.903C>T (p.Asn301=)	rs781392344	0.00003

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