ClinVar Miner

List of variants in gene TCF4 reported as uncertain significance for Pitt-Hopkins syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 278
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.*1763C>A rs556687934 0.00103
NM_001083962.2(TCF4):c.*452T>G rs541527476 0.00077
NM_001083962.2(TCF4):c.*1914C>A rs567164792 0.00069
NM_001083962.2(TCF4):c.*562C>T rs544619058 0.00058
NM_001083962.2(TCF4):c.*726T>C rs781564405 0.00053
NM_001083962.2(TCF4):c.*294C>T rs771124381 0.00042
NM_001083962.2(TCF4):c.*1100T>C rs562137658 0.00038
NM_001083962.2(TCF4):c.*2354A>G rs577771150 0.00036
NM_001083962.2(TCF4):c.*3209A>C rs767515404 0.00036
NM_001083962.2(TCF4):c.*4752A>G rs557952790 0.00036
NM_001243226.3(TCF4):c.237G>A (p.Trp79Ter) rs189262875 0.00027
NM_001083962.2(TCF4):c.*4833A>G rs540894858 0.00026
NM_001083962.2(TCF4):c.*3529T>A rs571044249 0.00021
NM_001083962.2(TCF4):c.*3014C>G rs756835904 0.00017
NM_001083962.2(TCF4):c.*5319A>G rs886053942 0.00017
NM_001083962.2(TCF4):c.*548C>T rs1031033510 0.00016
NM_001083962.2(TCF4):c.*4325A>G rs1272363 0.00013
NM_001083962.2(TCF4):c.*2300G>A rs902372212 0.00011
NM_001083962.2(TCF4):c.*2857C>T rs150131510 0.00011
NM_001083962.2(TCF4):c.*5240T>C rs576298143 0.00009
NM_001083962.2(TCF4):c.*754G>T rs886053958 0.00007
NM_001083962.2(TCF4):c.*3563A>C rs1002989362 0.00005
NM_001083962.2(TCF4):c.991-6T>G rs201721676 0.00005
NM_001083962.1(TCF4):c.-272G>A rs886053963 0.00004
NM_001083962.2(TCF4):c.*138G>A rs899287073 0.00004
NM_001083962.2(TCF4):c.*1912A>G rs886053955 0.00004
NM_001083962.2(TCF4):c.*1931G>A rs898174800 0.00004
NM_001083962.2(TCF4):c.*272G>T rs775288331 0.00004
NM_001083962.2(TCF4):c.*4320A>G rs867671676 0.00004
NM_001083962.2(TCF4):c.*5457T>G rs1275093791 0.00004
NM_001083962.2(TCF4):c.1157T>C (p.Ile386Thr) rs143594544 0.00004
NM_001083962.2(TCF4):c.*1827C>T rs886053956 0.00003
NM_001083962.2(TCF4):c.*3116C>T rs886053950 0.00003
NM_001083962.2(TCF4):c.*3386A>T rs1026588171 0.00003
NM_001083962.2(TCF4):c.*356A>G rs886053959 0.00003
NM_001083962.2(TCF4):c.*4477A>C rs576157069 0.00003
NM_001083962.2(TCF4):c.1113G>A (p.Ser371=) rs148308964 0.00003
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr) rs200889338 0.00003
NM_001083962.2(TCF4):c.*1855G>A rs753580131 0.00002
NM_001083962.2(TCF4):c.*2282C>T rs1034717910 0.00002
NM_001083962.2(TCF4):c.*5383T>C rs886053941 0.00002
NM_001083962.2(TCF4):c.*819A>G rs1220541873 0.00002
NM_001083962.2(TCF4):c.-113C>G rs866235198 0.00002
NM_001083962.2(TCF4):c.1154G>A (p.Arg385Gln) rs1420909531 0.00002
NM_001083962.1(TCF4):c.-184T>A rs930984050 0.00001
NM_001083962.2(TCF4):c.*1017G>T rs1433430873 0.00001
NM_001083962.2(TCF4):c.*10A>G rs1599336148 0.00001
NM_001083962.2(TCF4):c.*1443C>A rs893759854 0.00001
NM_001083962.2(TCF4):c.*1739G>A rs1160844011 0.00001
NM_001083962.2(TCF4):c.*1959G>A rs1385687901 0.00001
NM_001083962.2(TCF4):c.*1983T>C rs1429748165 0.00001
NM_001083962.2(TCF4):c.*2506G>A rs747532079 0.00001
NM_001083962.2(TCF4):c.*3756A>G rs886053949 0.00001
NM_001083962.2(TCF4):c.*4789G>A rs935844555 0.00001
NM_001083962.2(TCF4):c.*5370G>A rs553489380 0.00001
NM_001083962.2(TCF4):c.*5411G>A rs886053939 0.00001
NM_001083962.2(TCF4):c.*5418T>C rs886053938 0.00001
NM_001083962.2(TCF4):c.*5479G>A rs2046007931 0.00001
NM_001083962.2(TCF4):c.-102G>A rs2097670764 0.00001
NM_001083962.2(TCF4):c.1036T>G (p.Ser346Ala) rs2057694590 0.00001
NM_001083962.2(TCF4):c.1237G>C (p.Gly413Arg) rs768214584 0.00001
NM_001083962.2(TCF4):c.1289T>G (p.Met430Arg) rs1272053360 0.00001
NM_001083962.2(TCF4):c.1291G>T (p.Gly431Cys) rs752176058 0.00001
NM_001083962.2(TCF4):c.1331C>T (p.Ala444Val) rs761498822 0.00001
NM_001083962.2(TCF4):c.1413G>C (p.Gln471His) rs905111725 0.00001
NM_001083962.2(TCF4):c.1418C>T (p.Pro473Leu) rs1214980882 0.00001
NM_001083962.2(TCF4):c.1448C>G (p.Thr483Ser) rs773663759 0.00001
NM_001083962.2(TCF4):c.1598A>G (p.Lys533Arg) rs1568329915 0.00001
NM_001083962.2(TCF4):c.1951C>G (p.Pro651Ala) rs549600113 0.00001
NM_001083962.2(TCF4):c.212A>G (p.Tyr71Cys) rs763349461 0.00001
NM_001083962.2(TCF4):c.481C>T (p.Leu161Phe) rs755353080 0.00001
NM_001083962.2(TCF4):c.487A>G (p.Ser163Gly) rs1474917865 0.00001
NM_001083962.2(TCF4):c.584A>G (p.Asn195Ser) rs148573556 0.00001
NM_001083962.2(TCF4):c.649A>T (p.Met217Leu) rs768573052 0.00001
NM_001083962.2(TCF4):c.655+4A>T rs748830832 0.00001
NM_001083962.2(TCF4):c.659G>A (p.Gly220Asp) rs1480547602 0.00001
NM_001083962.2(TCF4):c.706C>G (p.Pro236Ala) rs139859596 0.00001
NM_001083962.2(TCF4):c.937G>A (p.Gly313Arg) rs767178395 0.00001
NM_001083962.2(TCF4):c.946G>A (p.Gly316Ser) rs993457884 0.00001
NC_000018.10:g.(?_55228205)_(55403734_?)dup
NC_000018.9:g.(?_52895456)_(53254347_?)dup
NM_001083962.1(TCF4):c.-248C>T rs886053962
NM_001083962.1(TCF4):c.-362A>C rs886053964
NM_001083962.1(TCF4):c.-474T>G rs886053965
NM_001083962.1(TCF4):c.-605G>T rs2097675348
NM_001083962.2(TCF4):c.*1405T>G rs1175824864
NM_001083962.2(TCF4):c.*1747T>G rs1374369209
NM_001083962.2(TCF4):c.*1968TAT[1] rs886053954
NM_001083962.2(TCF4):c.*2369TCC[2] rs886053953
NM_001083962.2(TCF4):c.*2565T>C rs886053952
NM_001083962.2(TCF4):c.*2822G>A rs886053951
NM_001083962.2(TCF4):c.*2918A>G rs1256019327
NM_001083962.2(TCF4):c.*295G>A rs1181653084
NM_001083962.2(TCF4):c.*2989GTT[2] rs773028910
NM_001083962.2(TCF4):c.*3130C>T rs777322827
NM_001083962.2(TCF4):c.*3338A>G rs2046362357
NM_001083962.2(TCF4):c.*3349C>A rs563445247
NM_001083962.2(TCF4):c.*3397dup rs550539621
NM_001083962.2(TCF4):c.*3870del rs66807288
NM_001083962.2(TCF4):c.*3981_*3982del rs35555522
NM_001083962.2(TCF4):c.*3982dup rs35555522
NM_001083962.2(TCF4):c.*4081_*4084del rs886053946
NM_001083962.2(TCF4):c.*4214GTTTTT[3] rs571078805
NM_001083962.2(TCF4):c.*4246G>T rs2046223434
NM_001083962.2(TCF4):c.*4320_*4321insGAA rs534293843
NM_001083962.2(TCF4):c.*4324_*4325dup rs369444573
NM_001083962.2(TCF4):c.*4325_*4326insAT rs1555696774
NM_001083962.2(TCF4):c.*4325dup rs369444573
NM_001083962.2(TCF4):c.*4338del rs886053945
NM_001083962.2(TCF4):c.*4353del rs11431395
NM_001083962.2(TCF4):c.*4354_*4357del rs886053943
NM_001083962.2(TCF4):c.*4623A>T rs1055588578
NM_001083962.2(TCF4):c.*4907G>C rs937224140
NM_001083962.2(TCF4):c.*5124G>T rs2046058572
NM_001083962.2(TCF4):c.*521G>C rs1013538438
NM_001083962.2(TCF4):c.*5339A>G rs2046029800
NM_001083962.2(TCF4):c.*5392_*5393del rs886053940
NM_001083962.2(TCF4):c.*5480G>A rs772957987
NM_001083962.2(TCF4):c.*5553del rs71670792
NM_001083962.2(TCF4):c.*786del rs375140529
NM_001083962.2(TCF4):c.*788G>T rs199626082
NM_001083962.2(TCF4):c.-160CGG[8] rs886053961
NM_001083962.2(TCF4):c.-21+10G>T rs886053960
NM_001083962.2(TCF4):c.-77C>G rs1048318120
NM_001083962.2(TCF4):c.1013A>G (p.Asn338Ser)
NM_001083962.2(TCF4):c.1057C>T (p.Pro353Ser) rs1284661237
NM_001083962.2(TCF4):c.107G>A (p.Gly36Glu) rs2097629411
NM_001083962.2(TCF4):c.1099G>A (p.Gly367Arg)
NM_001083962.2(TCF4):c.1105G>A (p.Ala369Thr)
NM_001083962.2(TCF4):c.1109C>T (p.Ser370Leu) rs1389107188
NM_001083962.2(TCF4):c.110C>T (p.Pro37Leu)
NM_001083962.2(TCF4):c.1112C>T (p.Ser371Leu)
NM_001083962.2(TCF4):c.1133C>G (p.Pro378Arg)
NM_001083962.2(TCF4):c.1138C>T (p.His380Tyr)
NM_001083962.2(TCF4):c.1147-3C>G rs2056333687
NM_001083962.2(TCF4):c.1147-3C>T
NM_001083962.2(TCF4):c.1180G>C (p.Asp394His) rs1198693569
NM_001083962.2(TCF4):c.1201C>T (p.Arg401Trp) rs1337772395
NM_001083962.2(TCF4):c.1208A>T (p.His403Leu) rs2145501920
NM_001083962.2(TCF4):c.1234C>T (p.Pro412Ser)
NM_001083962.2(TCF4):c.124A>G (p.Ser42Gly) rs796053423
NM_001083962.2(TCF4):c.1267G>C (p.Gly423Arg) rs1555764202
NM_001083962.2(TCF4):c.1288A>G (p.Met430Val)
NM_001083962.2(TCF4):c.1294G>C (p.Gly432Arg) rs2145499073
NM_001083962.2(TCF4):c.1303T>A (p.Ser435Thr)
NM_001083962.2(TCF4):c.1330G>C (p.Ala444Pro)
NM_001083962.2(TCF4):c.1350G>A (p.Met450Ile) rs11660217
NM_001083962.2(TCF4):c.136A>G (p.Thr46Ala) rs2097629150
NM_001083962.2(TCF4):c.1406C>T (p.Pro469Leu) rs2144678172
NM_001083962.2(TCF4):c.1417C>G (p.Pro473Ala)
NM_001083962.2(TCF4):c.1417C>T (p.Pro473Ser) rs2048837169
NM_001083962.2(TCF4):c.1420G>C (p.Val474Leu)
NM_001083962.2(TCF4):c.145+3A>G rs2147847929
NM_001083962.2(TCF4):c.146-3T>G rs1341051748
NM_001083962.2(TCF4):c.146-46442G>T rs1164726138
NM_001083962.2(TCF4):c.1460T>C (p.Leu487Pro)
NM_001083962.2(TCF4):c.1476C>A (p.Asp492Glu)
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser) rs1599570613
NM_001083962.2(TCF4):c.1487G>C (p.Gly496Ala) rs2144597295
NM_001083962.2(TCF4):c.1495C>T (p.Pro499Ser) rs1395053525
NM_001083962.2(TCF4):c.1508G>T (p.Gly503Val)
NM_001083962.2(TCF4):c.1532C>G (p.Ser511Cys) rs1555718228
NM_001083962.2(TCF4):c.1577C>A (p.Thr526Lys) rs202025804
NM_001083962.2(TCF4):c.1583C>A (p.Ser528Tyr)
NM_001083962.2(TCF4):c.1609G>A (p.Asp537Asn) rs2048187425
NM_001083962.2(TCF4):c.160A>T (p.Ser54Cys)
NM_001083962.2(TCF4):c.1619A>T (p.Asp540Val) rs1568329461
NM_001083962.2(TCF4):c.1621A>T (p.Ile541Phe)
NM_001083962.2(TCF4):c.1650-10T>G
NM_001083962.2(TCF4):c.1650-3C>G
NM_001083962.2(TCF4):c.1650-7C>G
NM_001083962.2(TCF4):c.1660G>A (p.Asp554Asn)
NM_001083962.2(TCF4):c.1665G>C (p.Glu555Asp)
NM_001083962.2(TCF4):c.1694G>A (p.Arg565His)
NM_001083962.2(TCF4):c.1736T>C (p.Leu579Pro)
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys) rs2047109965
NM_001083962.2(TCF4):c.1756G>A (p.Glu586Lys)
NM_001083962.2(TCF4):c.1770G>T (p.Glu590Asp)
NM_001083962.2(TCF4):c.1777_1779del (p.Arg593del) rs587784461
NM_001083962.2(TCF4):c.1778G>A (p.Arg593His) rs1041108937
NM_001083962.2(TCF4):c.1802G>T (p.Ser601Ile)
NM_001083962.2(TCF4):c.1806C>G (p.Asp602Glu) rs763359401
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile) rs2144403104
NM_001083962.2(TCF4):c.182A>G (p.Asn61Ser) rs1555672050
NM_001083962.2(TCF4):c.1831C>A (p.Leu611Ile) rs1555710107
NM_001083962.2(TCF4):c.1838A>G (p.Gln613Arg)
NM_001083962.2(TCF4):c.1879G>C (p.Glu627Gln) rs1555709822
NM_001083962.2(TCF4):c.1952C>A (p.Pro651His) rs148802110
NM_001083962.2(TCF4):c.1952dup (p.Leu652fs)
NM_001083962.2(TCF4):c.196A>G (p.Ser66Gly)
NM_001083962.2(TCF4):c.1990G>A (p.Ala664Thr) rs755332116
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser) rs755332116
NM_001083962.2(TCF4):c.2004G>A (p.Met668Ile)
NM_001083962.2(TCF4):c.207G>A (p.Arg69=) rs759654604
NM_001083962.2(TCF4):c.215G>C (p.Gly72Ala)
NM_001083962.2(TCF4):c.220G>A (p.Gly74Arg) rs2095860701
NM_001083962.2(TCF4):c.224C>T (p.Thr75Ile) rs1603483692
NM_001083962.2(TCF4):c.235C>G (p.His79Asp) rs957698131
NM_001083962.2(TCF4):c.242C>A (p.Thr81Asn) rs760934731
NM_001083962.2(TCF4):c.242C>G (p.Thr81Ser)
NM_001083962.2(TCF4):c.259T>C (p.Ser87Pro)
NM_001083962.2(TCF4):c.264T>A (p.His88Gln) rs2144778412
NM_001083962.2(TCF4):c.278C>T (p.Pro93Leu) rs1603483664
NM_001083962.2(TCF4):c.280C>T (p.Pro94Ser) rs779916094
NM_001083962.2(TCF4):c.299T>A (p.Ile100Lys)
NM_001083962.2(TCF4):c.304A>C (p.Ser102Arg) rs780638244
NM_001083962.2(TCF4):c.305-159dup
NM_001083962.2(TCF4):c.305-3C>G
NM_001083962.2(TCF4):c.305G>A (p.Ser102Asn) rs796053413
NM_001083962.2(TCF4):c.31G>C (p.Gly11Arg)
NM_001083962.2(TCF4):c.320G>C (p.Gly107Ala)
NM_001083962.2(TCF4):c.343G>C (p.Glu115Gln) rs867124521
NM_001083962.2(TCF4):c.347C>T (p.Ser116Leu)
NM_001083962.2(TCF4):c.350A>C (p.Asn117Thr) rs2093935698
NM_001083962.2(TCF4):c.358G>T (p.Gly120Cys) rs1603448353
NM_001083962.2(TCF4):c.359G>A (p.Gly120Asp)
NM_001083962.2(TCF4):c.369+4A>G
NM_001083962.2(TCF4):c.369+6_369+7del rs773484932
NM_001083962.2(TCF4):c.370-3T>C
NM_001083962.2(TCF4):c.370-5T>A rs2082203332
NM_001083962.2(TCF4):c.374G>A (p.Ser125Asn)
NM_001083962.2(TCF4):c.386G>A (p.Gly129Asp)
NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser) rs796053416
NM_001083962.2(TCF4):c.452A>C (p.Tyr151Ser)
NM_001083962.2(TCF4):c.466C>T (p.Pro156Ser)
NM_001083962.2(TCF4):c.476G>A (p.Arg159Lys) rs2144785394
NM_001083962.2(TCF4):c.478C>G (p.Pro160Ala)
NM_001083962.2(TCF4):c.496A>G (p.Met166Val)
NM_001083962.2(TCF4):c.499+5_499+6dup
NM_001083962.2(TCF4):c.508A>G (p.Thr170Ala) rs796053417
NM_001083962.2(TCF4):c.509C>T (p.Thr170Ile)
NM_001083962.2(TCF4):c.513G>C (p.Lys171Asn) rs2082088013
NM_001083962.2(TCF4):c.529C>T (p.Pro177Ser) rs2144766710
NM_001083962.2(TCF4):c.549+1_549+2dup rs2082082408
NM_001083962.2(TCF4):c.549+23042C>T rs2147664454
NM_001083962.2(TCF4):c.554A>G (p.Tyr185Cys) rs1416409753
NM_001083962.2(TCF4):c.589G>A (p.Asp197Asn) rs762209412
NM_001083962.2(TCF4):c.602_610dup (p.Tyr201_Ser203dup) rs1568652980
NM_001083962.2(TCF4):c.604C>A (p.Pro202Thr)
NM_001083962.2(TCF4):c.604C>T (p.Pro202Ser)
NM_001083962.2(TCF4):c.622A>G (p.Thr208Ala) rs1040642298
NM_001083962.2(TCF4):c.633C>G (p.Phe211Leu)
NM_001083962.2(TCF4):c.634C>T (p.Pro212Ser)
NM_001083962.2(TCF4):c.643T>G (p.Phe215Val) rs1170209002
NM_001083962.2(TCF4):c.649A>G (p.Met217Val)
NM_001083962.2(TCF4):c.650T>C (p.Met217Thr) rs2146263735
NM_001083962.2(TCF4):c.667A>G (p.Ser223Gly) rs2146148434
NM_001083962.2(TCF4):c.688T>A (p.Ser230Thr)
NM_001083962.2(TCF4):c.691A>G (p.Ser231Gly) rs2061384063
NM_001083962.2(TCF4):c.695G>A (p.Gly232Glu) rs2061383201
NM_001083962.2(TCF4):c.698T>C (p.Met233Thr) rs1391010086
NM_001083962.2(TCF4):c.699G>A (p.Met233Ile)
NM_001083962.2(TCF4):c.701A>G (p.Asn234Ser) rs2146147095
NM_001083962.2(TCF4):c.710G>A (p.Gly237Asp)
NM_001083962.2(TCF4):c.712T>C (p.Tyr238His) rs2146146536
NM_001083962.2(TCF4):c.715G>A (p.Ala239Thr)
NM_001083962.2(TCF4):c.719G>C (p.Gly240Ala) rs758812309
NM_001083962.2(TCF4):c.721A>T (p.Met241Leu) rs2061374229
NM_001083962.2(TCF4):c.723G>A (p.Met241Ile)
NM_001083962.2(TCF4):c.73A>T (p.Met25Leu)
NM_001083962.2(TCF4):c.760T>C (p.Tyr254His) rs1601098241
NM_001083962.2(TCF4):c.776C>T (p.Pro259Leu)
NM_001083962.2(TCF4):c.781G>C (p.Glu261Gln)
NM_001083962.2(TCF4):c.785G>A (p.Arg262His) rs1555796645
NM_001083962.2(TCF4):c.789G>A (p.Leu263=)
NM_001083962.2(TCF4):c.83C>T (p.Pro28Leu)
NM_001083962.2(TCF4):c.8A>G (p.His3Arg) rs2097656766
NM_001083962.2(TCF4):c.925A>G (p.Asn309Asp)
NM_001083962.2(TCF4):c.939G>A (p.Gly313=) rs1470608351
NM_001083962.2(TCF4):c.939_947del (p.Ala314_Gly316del)
NM_001083962.2(TCF4):c.941C>T (p.Ala314Val)
NM_001083962.2(TCF4):c.955C>A (p.Gln319Lys) rs2145729894
NM_001083962.2(TCF4):c.990+12T>A rs144346949
NM_001083962.2(TCF4):c.995A>G (p.Tyr332Cys) rs1568510320
NM_001083962.2(TCF4):c.9C>G (p.His3Gln) rs1361892226
NM_001243226.3(TCF4):c.86T>C (p.Met29Thr) rs748774594
NM_001243230.2(TCF4):c.58A>G (p.Lys20Glu) rs2097674336

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