ClinVar Miner

List of variants reported as pathogenic for Pitt-Hopkins syndrome by Invitae

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Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NC_000018.10:g.(?_55228205)_(55635917_?)del
NC_000018.10:g.(?_55234528)_(55234703_?)del
NC_000018.9:g.(?_52888562)_53256860del
NC_000018.9:g.(?_52895456)_(53254347_?)del
NC_000018.9:g.(?_52921708)_(53070769_?)del
NC_000018.9:g.(?_52927160)_(53254347_?)del
NC_000018.9:g.(?_53017570)_(53070769_?)del
NC_000018.9:g.(?_53017570)_(53254347_?)del
NC_000018.9:g.(?_53070665)_(53070769_?)del
NC_000018.9:g.(?_53128230)_(53131388_?)del
NM_001083962.2(TCF4):c.1135_1138dup (p.His380fs) rs2145598769
NM_001083962.2(TCF4):c.1146+3A>G rs1568490874
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys) rs2145503179
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer) rs1555764839
NM_001083962.2(TCF4):c.1171G>T (p.Glu391Ter) rs1555764797
NM_001083962.2(TCF4):c.1203del (p.Asn402fs) rs2056315077
NM_001083962.2(TCF4):c.1239_1246del (p.Gly416fs)
NM_001083962.2(TCF4):c.1328C>G (p.Ser443Ter) rs1600285757
NM_001083962.2(TCF4):c.1337_1340del (p.Arg446fs)
NM_001083962.2(TCF4):c.1422del (p.Pro475fs)
NM_001083962.2(TCF4):c.1438C>T (p.Gln480Ter) rs727505396
NM_001083962.2(TCF4):c.1481_1482insAA (p.Tyr494Ter) rs2048818361
NM_001083962.2(TCF4):c.1504C>T (p.Gln502Ter) rs1555718410
NM_001083962.2(TCF4):c.1504del (p.Gln502fs) rs1555718426
NM_001083962.2(TCF4):c.1505dup (p.Gln504fs) rs2144596313
NM_001083962.2(TCF4):c.1527del (p.Ser510fs) rs1568331766
NM_001083962.2(TCF4):c.1552G>T (p.Glu518Ter) rs1555718063
NM_001083962.2(TCF4):c.1557del (p.Asp520fs) rs1555717982
NM_001083962.2(TCF4):c.1570C>T (p.Gln524Ter) rs796053418
NM_001083962.2(TCF4):c.1585del (p.Ser529fs)
NM_001083962.2(TCF4):c.1681del (p.Gln561fs) rs2047128609
NM_001083962.2(TCF4):c.1720A>G (p.Asn574Asp) rs2047119736
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001083962.2(TCF4):c.1730A>G (p.Glu577Gly)
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) rs2144406630
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.1777del (p.Arg593fs) rs2047103931
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val) rs1568303352
NM_001083962.2(TCF4):c.1867C>T (p.Gln623Ter)
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001083962.2(TCF4):c.188del (p.Gly63fs) rs2144896799
NM_001083962.2(TCF4):c.41_62del (p.Lys14fs)
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs) rs398123561
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter) rs878853149
NM_001083962.2(TCF4):c.555T>A (p.Tyr185Ter)
NM_001083962.2(TCF4):c.622_628dup (p.Thr210fs) rs2146264329
NM_001083962.2(TCF4):c.652C>T (p.Gln218Ter) rs1064796853
NM_001083962.2(TCF4):c.670del (p.Ser224fs) rs2146148271
NM_001083962.2(TCF4):c.717del (p.Gly240fs) rs2061376825
NM_001083962.2(TCF4):c.740dup (p.His247fs) rs1568620774
NM_001083962.2(TCF4):c.742_743del (p.Ile248fs) rs1568620706
NM_001083962.2(TCF4):c.762del (p.Cys255fs) rs2061366129
NM_001083962.2(TCF4):c.770dup (p.His258fs) rs2146144310
NM_001083962.2(TCF4):c.790-1G>A rs2145958521
NM_001083962.2(TCF4):c.887del (p.Cys296fs) rs2145956310
NM_001083962.2(TCF4):c.922+5G>A rs2059972276
NM_001083962.2(TCF4):c.923-1G>A
NM_001083962.2(TCF4):c.923-2A>G rs1600578193

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