ClinVar Miner

List of variants studied for Pitt-Hopkins syndrome by Illumina Laboratory Services, Illumina

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Minimum conflict level:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.*5106T>C rs1261084 0.50173
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.37317
NM_001083962.2(TCF4):c.*2951A>G rs76640061 0.03016
NM_001083962.2(TCF4):c.*3418dup rs147548324 0.01952
NM_001083962.2(TCF4):c.*451A>G rs115039389 0.01715
NM_001083962.2(TCF4):c.*53C>A rs111947783 0.01565
NM_001083962.2(TCF4):c.-125C>T rs551645393 0.00660
NM_001083962.2(TCF4):c.*4088T>C rs182171482 0.00632
NM_001083962.2(TCF4):c.*909G>A rs143242430 0.00557
NM_001083962.2(TCF4):c.*4437G>C rs61524834 0.00436
NM_001083962.2(TCF4):c.*1903G>A rs117913194 0.00331
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_001083962.2(TCF4):c.*549G>A rs148367822 0.00265
NM_001083962.2(TCF4):c.*1576T>C rs190738599 0.00249
NM_001083962.2(TCF4):c.*2553C>T rs117874302 0.00247
NM_001083962.2(TCF4):c.*5019T>C rs140368699 0.00235
NM_001243230.2(TCF4):c.66G>A (p.Glu22=) rs113395332 0.00228
NM_001083962.2(TCF4):c.*2688A>G rs188623567 0.00226
NM_001083962.2(TCF4):c.*3938G>A rs186817281 0.00190
NM_001083962.2(TCF4):c.*3269T>A rs192850080 0.00185
NM_001083962.2(TCF4):c.73-3T>C rs148658897 0.00182
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001083962.2(TCF4):c.*3404G>C rs550785276 0.00153
NM_001083962.2(TCF4):c.*22G>A rs182372608 0.00139
NM_001083962.2(TCF4):c.-87G>A rs533414588 0.00137
NM_001083962.2(TCF4):c.*3491C>T rs185402957 0.00120
NM_001083962.2(TCF4):c.*1763C>A rs556687934 0.00103
NM_001083962.2(TCF4):c.*832G>T rs181670668 0.00099
NM_001083962.2(TCF4):c.*4549C>G rs562495030 0.00096
NM_001083962.2(TCF4):c.305-14G>A rs187703131 0.00084
NM_001083962.2(TCF4):c.*1889T>G rs180957404 0.00079
NM_001083962.2(TCF4):c.*452T>G rs541527476 0.00077
NM_001083962.2(TCF4):c.*2660A>G rs140356463 0.00072
NM_001083962.2(TCF4):c.*1914C>A rs567164792 0.00069
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936 0.00067
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00067
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_001083962.2(TCF4):c.*562C>T rs544619058 0.00058
NM_001083962.2(TCF4):c.*2413G>A rs191924864 0.00056
NM_001083962.2(TCF4):c.*726T>C rs781564405 0.00053
NM_001083962.2(TCF4):c.*5-10C>T rs552239655 0.00052
NM_001083962.2(TCF4):c.936C>T (p.Ser312=) rs368270265 0.00043
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.*708T>A rs186018055 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_001083962.2(TCF4):c.790-9T>C rs373434281 0.00036
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298 0.00034
NM_001083962.2(TCF4):c.*5369C>T rs75090842 0.00032
NM_001083962.2(TCF4):c.*2001G>T rs201139617 0.00026
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.1487-5G>A rs749176054 0.00016
NM_001083962.2(TCF4):c.208-8A>G rs184943897 0.00015
NM_001083962.2(TCF4):c.*4325A>G rs1272363 0.00013
NM_001083962.2(TCF4):c.1551C>T (p.Asp517=) rs140862252 0.00012
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.1704G>A (p.Glu568=) rs144068462 0.00006
NM_001083962.2(TCF4):c.*3563A>C rs1002989362 0.00005
NM_001083962.2(TCF4):c.816C>T (p.Asp272=) rs138403996 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.945C>T (p.Ala315=) rs200115299 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.903C>T (p.Asn301=) rs781392344 0.00003
NM_001083962.2(TCF4):c.*1201C>T rs541953475 0.00002
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.1354G>A (p.Gly452Arg) rs138570124 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.*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.*5503T>C rs555807846 0.00001
NM_001083962.2(TCF4):c.-102G>A rs2097670764 0.00001
NM_001083962.2(TCF4):c.212A>G (p.Tyr71Cys) rs763349461 0.00001
NM_001083962.2(TCF4):c.687C>A (p.Ser229=) rs200800656 0.00001
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.*1339dup rs145712320
NM_001083962.2(TCF4):c.*1405T>G rs1175824864
NM_001083962.2(TCF4):c.*1747T>G rs1374369209
NM_001083962.2(TCF4):c.*1761del rs71674214
NM_001083962.2(TCF4):c.*1799G>C rs187063308
NM_001083962.2(TCF4):c.*1968TAT[1] rs886053954
NM_001083962.2(TCF4):c.*2010dup rs141970461
NM_001083962.2(TCF4):c.*2369TCC[2] rs886053953
NM_001083962.2(TCF4):c.*2565T>C rs886053952
NM_001083962.2(TCF4):c.*2702_*2704del rs150498725
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.*3058C>T rs543261219
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.*3868_*3870del rs66807288
NM_001083962.2(TCF4):c.*3870del rs66807288
NM_001083962.2(TCF4):c.*3981_*3982del rs35555522
NM_001083962.2(TCF4):c.*3982del rs35555522
NM_001083962.2(TCF4):c.*3982dup rs35555522
NM_001083962.2(TCF4):c.*4061dup rs140440103
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.*4319_*4320insGA rs373174214
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.*4352_*4353del rs11431395
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.*5189_*5192del rs541061758
NM_001083962.2(TCF4):c.*521G>C rs1013538438
NM_001083962.2(TCF4):c.*5299A>G rs1261085
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.*5553dup rs71670792
NM_001083962.2(TCF4):c.*785_*786dup rs375140529
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.1486+5G>T rs2144674947
NM_001083962.2(TCF4):c.1501C>T (p.Leu501=) rs781382144
NM_001083962.2(TCF4):c.1577C>A (p.Thr526Lys) rs202025804
NM_001083962.2(TCF4):c.1952C>A (p.Pro651His) rs148802110
NM_001083962.2(TCF4):c.939G>A (p.Gly313=) rs1470608351
NM_001083962.2(TCF4):c.990+12T>A rs144346949

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