ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.789+23C>T rs1788027 0.53241
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.305-165C>T rs17522826 0.15868
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_001083962.1(TCF4):c.-453G>A 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.*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.*2660A>G rs140356463 0.00072
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.*2413G>A rs191924864 0.00056
NM_001083962.2(TCF4):c.*5-10C>T rs552239655 0.00052
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met) rs202025804 0.00051
NM_001083962.2(TCF4):c.936C>T (p.Ser312=) rs368270265 0.00043
NM_001083962.2(TCF4):c.*708T>A rs186018055 0.00038
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994 0.00037
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.1487-5G>A rs749176054 0.00016
NM_001083962.2(TCF4):c.990+12T>C rs144346949 0.00016
NM_001083962.2(TCF4):c.208-8A>G rs184943897 0.00015
NM_001083962.2(TCF4):c.1551C>T (p.Asp517=) rs140862252 0.00012
NM_001083962.2(TCF4):c.146-11C>G rs191464553 0.00011
NM_001083962.2(TCF4):c.923-17G>T rs550597992 0.00010
NM_001083962.2(TCF4):c.1704G>A (p.Glu568=) rs144068462 0.00006
NM_001083962.2(TCF4):c.1194T>C (p.His398=) rs200225114 0.00004
NM_001083962.2(TCF4):c.945C>T (p.Ala315=) rs200115299 0.00004
NM_001083962.2(TCF4):c.1486+4G>C rs201274415 0.00003
NM_001083962.2(TCF4):c.1650-14C>T rs569480730 0.00002
NM_001083962.2(TCF4):c.245G>A (p.Ser82Asn) rs773462232 0.00002
NM_001083962.2(TCF4):c.*5503T>C rs555807846 0.00001
NM_001083962.2(TCF4):c.1070-5A>G rs1416559433 0.00001
NM_001083962.2(TCF4):c.1318G>A (p.Gly440Ser) rs759754956 0.00001
NM_001083962.2(TCF4):c.1349T>C (p.Met450Thr) rs774283982 0.00001
NM_001083962.2(TCF4):c.209A>G (p.Asn70Ser) rs200359873 0.00001
NM_001083962.2(TCF4):c.246C>T (p.Ser82=) rs1329250167 0.00001
NM_001083962.2(TCF4):c.639C>T (p.Ser213=) rs771829952 0.00001
NM_001083962.2(TCF4):c.*1339dup rs145712320
NM_001083962.2(TCF4):c.*1761del rs71674214
NM_001083962.2(TCF4):c.*1799G>C rs187063308
NM_001083962.2(TCF4):c.*2010dup rs141970461
NM_001083962.2(TCF4):c.*3058C>T rs543261219
NM_001083962.2(TCF4):c.*3982del rs35555522
NM_001083962.2(TCF4):c.*4319_*4320insGA rs373174214
NM_001083962.2(TCF4):c.*4352_*4353del rs11431395
NM_001083962.2(TCF4):c.*5299A>G rs1261085
NM_001083962.2(TCF4):c.*5553dup rs71670792
NM_001083962.2(TCF4):c.*785_*786dup rs375140529
NM_001083962.2(TCF4):c.1231A>G (p.Met411Val) rs2145501402
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001083962.2(TCF4):c.1501C>T (p.Leu501=) rs781382144
NM_001083962.2(TCF4):c.1594A>G (p.Lys532Glu) rs1555717654
NM_001083962.2(TCF4):c.1969C>G (p.Pro657Ala) rs1220562859
NM_001083962.2(TCF4):c.322T>A (p.Ser108Thr) rs112222111
NM_001083962.2(TCF4):c.361T>G (p.Cys121Gly) rs2146490420
NM_001083962.2(TCF4):c.369+12T>G rs777983584
NM_001083962.2(TCF4):c.441G>C (p.Gln147His) rs2082192813
NM_001083962.2(TCF4):c.470G>A (p.Arg157Gln) rs1438864984
NM_001083962.2(TCF4):c.571A>G (p.Thr191Ala) rs753332007
NM_001083962.2(TCF4):c.649A>C (p.Met217Leu) rs768573052
NM_001083962.2(TCF4):c.991-18del
NM_001083962.2(TCF4):c.991-18dup rs138389096

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