ClinVar Miner

List of variants in gene LOC126862757, TCF4 studied for Pitt-Hopkins syndrome

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.790-9T>C rs373434281 0.00036
NM_001083962.2(TCF4):c.790-19T>C rs373683231 0.00010
NM_001083962.2(TCF4):c.807C>T (p.Ser269=) rs143896861 0.00008
NM_001083962.2(TCF4):c.816C>T (p.Asp272=) rs138403996 0.00005
NM_001083962.2(TCF4):c.903C>T (p.Asn301=) rs781392344 0.00003
NM_001083962.2(TCF4):c.836C>T (p.Pro279Leu) rs772975240 0.00002
NM_001083962.2(TCF4):c.891G>A (p.Thr297=) rs750408686 0.00002
NM_001083962.2(TCF4):c.790-4A>G rs765187021 0.00001
NM_001083962.2(TCF4):c.790-6C>A rs553688184 0.00001
NM_001083962.2(TCF4):c.797C>T (p.Pro266Leu) rs201776550 0.00001
NM_001083962.2(TCF4):c.851A>G (p.His284Arg) rs748555967 0.00001
NM_001083962.2(TCF4):c.858T>C (p.Ser286=) rs749844373 0.00001
NM_001083962.2(TCF4):c.865A>G (p.Asn289Asp) rs1182405539 0.00001
NM_001083962.2(TCF4):c.879C>T (p.Thr293=) rs780424841 0.00001
NM_001083962.2(TCF4):c.904G>A (p.Gly302Arg) rs1341198543 0.00001
NM_001083962.2(TCF4):c.922+15T>C rs550736172 0.00001
NM_001083962.2(TCF4):c.790-17del rs2145958975
NM_001083962.2(TCF4):c.790-1G>A rs2145958521
NM_001083962.2(TCF4):c.790-2A>G rs1600866162
NM_001083962.2(TCF4):c.790-6C>G rs553688184
NM_001083962.2(TCF4):c.790A>T (p.Ser264Cys)
NM_001083962.2(TCF4):c.791del (p.Ser264fs) rs587784468
NM_001083962.2(TCF4):c.795T>A (p.Tyr265Ter) rs1600865932
NM_001083962.2(TCF4):c.798A>G (p.Pro266=)
NM_001083962.2(TCF4):c.802C>T (p.His268Tyr)
NM_001083962.2(TCF4):c.808T>A (p.Ser270Thr) rs2059992286
NM_001083962.2(TCF4):c.810A>G (p.Ser270=) rs2145957942
NM_001083962.2(TCF4):c.817A>G (p.Ile273Val)
NM_001083962.2(TCF4):c.823T>G (p.Ser275Ala) rs2059990078
NM_001083962.2(TCF4):c.831del (p.Pro278fs)
NM_001083962.2(TCF4):c.837G>A (p.Pro279=) rs1304005322
NM_001083962.2(TCF4):c.839T>C (p.Met280Thr) rs1568580200
NM_001083962.2(TCF4):c.840_841insGAGAAAG (p.Ser281fs)
NM_001083962.2(TCF4):c.844A>G (p.Thr282Ala)
NM_001083962.2(TCF4):c.850C>T (p.His284Tyr) rs869312695
NM_001083962.2(TCF4):c.854G>A (p.Arg285His)
NM_001083962.2(TCF4):c.869A>G (p.His290Arg) rs2059981842
NM_001083962.2(TCF4):c.878C>A (p.Thr293Asn)
NM_001083962.2(TCF4):c.879del (p.Ser294fs)
NM_001083962.2(TCF4):c.887del (p.Cys296fs) rs2145956310
NM_001083962.2(TCF4):c.890C>T (p.Thr297Met) rs756279357
NM_001083962.2(TCF4):c.900C>A (p.Ala300=) rs1405612686
NM_001083962.2(TCF4):c.902A>G (p.Asn301Ser) rs1555789091
NM_001083962.2(TCF4):c.908del (p.Thr303fs) rs1600861681
NM_001083962.2(TCF4):c.918_922+8del rs1600861021
NM_001083962.2(TCF4):c.919_922+2delinsGTCCC rs1555789019
NM_001083962.2(TCF4):c.922+12A>G
NM_001083962.2(TCF4):c.922+15del rs2145954618
NM_001083962.2(TCF4):c.922+1G>T rs2059973359
NM_001083962.2(TCF4):c.922+20A>G
NM_001083962.2(TCF4):c.922+3G>T rs2145955178
NM_001083962.2(TCF4):c.922+5G>A rs2059972276

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