ClinVar Miner

List of variants studied for Pitt-Hopkins syndrome by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1034del (p.Pro345fs) rs1568509890
NM_001083962.2(TCF4):c.1069+1G>T rs797045072
NM_001083962.2(TCF4):c.124A>G (p.Ser42Gly) rs796053423
NM_001083962.2(TCF4):c.1292del (p.Gly431fs) rs1568471940
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001083962.2(TCF4):c.937_941del (p.Gly313fs) rs1568523662

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