ClinVar Miner

List of variants studied for Pitt-Hopkins syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1146+1G>A rs587784458
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1350G>A (p.Met450Ile) rs11660217
NM_001083962.2(TCF4):c.1411C>T (p.Gln471Ter) rs797046033
NM_001083962.2(TCF4):c.1498G>T (p.Gly500Ter) rs587784459
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro) rs121909123
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.2(TCF4):c.1760C>T (p.Ala587Val) rs1555710523
NM_001083962.2(TCF4):c.1777_1779del (p.Arg593del) rs587784461
NM_001083962.2(TCF4):c.1834del (p.His612fs) rs1555710069
NM_001083962.2(TCF4):c.1840G>C (p.Ala614Pro) rs587784462
NM_001083962.2(TCF4):c.1871A>C (p.Gln624Pro) rs797046034
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_001083962.2(TCF4):c.415del (p.Leu139fs) rs587784463
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter) rs587784464
NM_001083962.2(TCF4):c.655+1G>A rs587784465
NM_001083962.2(TCF4):c.655+1_655+2dup rs797046036
NM_001083962.2(TCF4):c.656-1G>C rs587784466
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg) rs1555796785
NM_001083962.2(TCF4):c.791del (p.Ser264fs) rs587784468
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001083962.2(TCF4):c.991-2A>G rs587784470

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