List of variants in gene combination LOC121627832, TCF4 reported as likely benign for Pitt-Hopkins syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001083962.2(TCF4):c.1371T>C (p.Asp457=)	rs762922637	0.00005
NM_001083962.2(TCF4):c.1370A>G (p.Asp457Gly)	rs930778822	0.00003
NM_001083962.2(TCF4):c.1351-10G>T	rs368578596	0.00001
NM_001083962.2(TCF4):c.1351-10G>A	rs368578596
NM_001083962.2(TCF4):c.1351-11C>T
NM_001083962.2(TCF4):c.1351-18T>A
NM_001083962.2(TCF4):c.1356G>T (p.Gly452=)	rs2048850147
NM_001083962.2(TCF4):c.1374C>T (p.Gly458=)	rs2511636567

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