ClinVar Miner

List of variants studied for Pitt-Hopkins syndrome by Mendelics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.923-27T>G rs368057502 0.00131
NM_001083962.2(TCF4):c.1438C>T (p.Gln480Ter) rs727505396
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser) rs1599570613
NM_001083962.2(TCF4):c.1699_1701del (p.Lys567del) rs2144408449
NM_001083962.2(TCF4):c.327C>A (p.Tyr109Ter) rs1418586166
NM_001083962.2(TCF4):c.469del (p.Arg157fs) rs1569138023
NM_001083962.2(TCF4):c.539del (p.Leu180fs) rs1603282307
NM_001083962.2(TCF4):c.790-2A>G rs1600866162
NM_001083962.2(TCF4):c.918_922+8del rs1600861021
NM_001083962.2(TCF4):c.968C>T (p.Ala323Val) rs797045003

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