ClinVar Miner

List of variants in gene combination LOC126862757, TCF4 reported as uncertain significance for developmental defect during embryogenesis

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
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.797C>T (p.Pro266Leu) rs201776550 0.00001
NM_001083962.2(TCF4):c.851A>G (p.His284Arg) rs748555967 0.00001
NM_001083962.2(TCF4):c.865A>G (p.Asn289Asp) rs1182405539 0.00001
NM_001083962.2(TCF4):c.904G>A (p.Gly302Arg) rs1341198543 0.00001
NM_001083962.2(TCF4):c.790-6C>G rs553688184
NM_001083962.2(TCF4):c.790A>T (p.Ser264Cys)
NM_001083962.2(TCF4):c.802C>T (p.His268Tyr)
NM_001083962.2(TCF4):c.808T>A (p.Ser270Thr) rs2059992286
NM_001083962.2(TCF4):c.817A>G (p.Ile273Val)
NM_001083962.2(TCF4):c.823T>G (p.Ser275Ala) rs2059990078
NM_001083962.2(TCF4):c.839T>C (p.Met280Thr) rs1568580200
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.890C>T (p.Thr297Met) rs756279357
NM_001083962.2(TCF4):c.902A>G (p.Asn301Ser) rs1555789091

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